GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Sep 21, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000138428.3

Allele description [Variation Report for GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3]

GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3

Genes:
  • LOC107275226:10p13 CCDC3 distal Alu-mediated recombination region [Gene]
  • LOC107275223:10p13 CCDC3 medial Alu-mediated recombination region [Gene]
  • LOC107275222:10p13 CCDC3 proximal Alu-mediated recombination region [Gene]
  • LOC108903148:10p13 OPTN distal Alu-mediated recombination region [Gene]
  • LOC108903149:10p13 OPTN proximal Alu-mediated recombination region [Gene]
  • HACD1:3-hydroxyacyl-CoA dehydratase 1 [Gene - OMIM - HGNC]
  • PFKFB3:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [Gene - OMIM - HGNC]
  • ACBD7-DCLRE1CP1:ACBD7-DCLRE1CP1 readthrough [Gene]
  • ADARB2-AS1:ADARB2 antisense RNA 1 [Gene - HGNC]
  • ARL5B:ADP ribosylation factor like GTPase 5B [Gene - OMIM - HGNC]
  • ATP5F1C:ATP synthase F1 subunit gamma [Gene - OMIM - HGNC]
  • BEND7:BEN domain containing 7 [Gene - HGNC]
  • BMI1:BMI1 proto-oncogene, polycomb ring finger [Gene - OMIM - HGNC]
  • LOC108348022:CAGE-defined B cell enhancer downstream of LOC105376365 [Gene]
  • CALML3-AS1:CALML3 antisense RNA 1 [Gene - HGNC]
  • CELF2-AS1:CELF2 antisense RNA 1 [Gene - HGNC]
  • CELF2-AS2:CELF2 antisense RNA 2 [Gene - HGNC]
  • CELF2-DT:CELF2 divergent transript [Gene - HGNC]
  • COMMD3:COMM domain containing 3 [Gene - OMIM - HGNC]
  • COMMD3-BMI1:COMMD3-BMI1 readthrough [Gene - HGNC]
  • LOC116216105:CRISPRi-validated cis-regulatory element chr10.143 [Gene]
  • LOC116216106:CRISPRi-validated cis-regulatory element chr10.145 [Gene]
  • LOC116216107:CRISPRi-validated cis-regulatory element chr10.180 [Gene]
  • LOC116216108:CRISPRi-validated cis-regulatory element chr10.185 [Gene]
  • LOC116216109:CRISPRi-validated cis-regulatory element chr10.193 [Gene]
  • LOC116216110:CRISPRi-validated cis-regulatory element chr10.219 [Gene]
  • LOC116216111:CRISPRi-validated cis-regulatory element chr10.222 [Gene]
  • LOC116216112:CRISPRi-validated cis-regulatory element chr10.454 [Gene]
  • CELF2:CUGBP Elav-like family member 2 [Gene - OMIM - HGNC]
  • DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
  • DNAJC1:DnaJ heat shock protein family (Hsp40) member C1 [Gene - OMIM - HGNC]
  • FBH1:F-box DNA helicase 1 [Gene - OMIM - HGNC]
  • FRMD4A:FERM domain containing 4A [Gene - OMIM - HGNC]
  • LOC111589212:FOXA motif-containing MPRA enhancer 241 [Gene]
  • GPR158:G protein-coupled receptor 158 [Gene - OMIM - HGNC]
  • GATA3:GATA binding protein 3 [Gene - OMIM - HGNC]
  • LOC111501766:GATA motif-containing MPRA enhancer 283 [Gene]
  • GATA3-AS1:GATA3 antisense RNA 1 [Gene - HGNC]
  • GDI2:GDP dissociation inhibitor 2 [Gene - OMIM - HGNC]
  • GPR158-AS1:GPR158 antisense RNA 1 [Gene - HGNC]
  • GTPBP4:GTP binding protein 4 [Gene - HGNC]
  • LOC111589206:HNF4 motif-containing MPRA enhancer 225 [Gene]
  • IDI2-AS1:IDI2 antisense RNA 1 [Gene - OMIM - HGNC]
  • KIAA1217:KIAA1217 [Gene - OMIM - HGNC]
  • KIN:Kin17 DNA and RNA binding protein [Gene - OMIM - HGNC]
  • KLF6:Kruppel like factor 6 [Gene - OMIM - HGNC]
  • LARP4B:La ribonucleoprotein 4B [Gene - OMIM - HGNC]
  • MALRD1:MAM and LDL receptor class A domain containing 1 [Gene - OMIM - HGNC]
  • MINDY3:MINDY lysine 48 deubiquitinase 3 [Gene - OMIM - HGNC]
  • LOC108353817:MIR1254-2-OTUD1 intergenic CAGE-defined monocyte enhancer [Gene]
  • LOC108353819:MIR1265-FAM107B intergenic CAGE-defined T cell enhancer [Gene]
  • MIR1915HG:MIR1915 host gene [Gene - HGNC]
  • MLLT10:MLLT10 histone lysine methyltransferase DOT1L cofactor [Gene - OMIM - HGNC]
  • NMT2:N-myristoyltransferase 2 [Gene - OMIM - HGNC]
  • NEBL-AS1:NEBL antisense RNA 1 [Gene - HGNC]
  • LOC111464994:NFE2L2 motif-containing MPRA enhancer 245 [Gene]
  • NSUN6:NOP2/Sun RNA methyltransferase 6 [Gene - OMIM - HGNC]
  • OTUD1:OTU deubiquitinase 1 [Gene - OMIM - HGNC]
  • PITRM1-AS1:PITRM1 antisense RNA 1 [Gene - HGNC]
  • PRKCQ-AS1:PRKCQ antisense RNA 1 [Gene - HGNC]
  • PROSER2-AS1:PROSER2 antisense RNA 1 [Gene - HGNC]
  • RBM17:RNA binding motif protein 17 [Gene - OMIM - HGNC]
  • RPP38-DT:RPP38 divergent transcript [Gene - HGNC]
  • RSU1:Ras suppressor protein 1 [Gene - OMIM - HGNC]
  • ARHGAP21:Rho GTPase activating protein 21 [Gene - OMIM - HGNC]
  • SEC61A2:SEC61 translocon subunit alpha 2 [Gene - OMIM - HGNC]
  • SKIDA1:SKI/DACH domain containing 1 [Gene - HGNC]
  • SLC39A12-AS1:SLC39A12 antisense RNA 1 [Gene - HGNC]
  • ST8SIA6:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 [Gene - OMIM - HGNC]
  • ST8SIA6-AS1:ST8SIA6 antisense RNA 1 [Gene - HGNC]
  • STAM-AS1:STAM antisense RNA 1 (head to head) [Gene - HGNC]
  • SFMBT2:Scm like with four mbt domains 2 [Gene - OMIM - HGNC]
  • LOC111946229:Sharpr-MPRA regulatory region 11860 [Gene]
  • LOC111946234:Sharpr-MPRA regulatory region 12277 [Gene]
  • LOC111946227:Sharpr-MPRA regulatory region 12489 [Gene]
  • LOC111946246:Sharpr-MPRA regulatory region 12587 [Gene]
  • LOC111946223:Sharpr-MPRA regulatory region 12763 [Gene]
  • LOC111946228:Sharpr-MPRA regulatory region 12954 [Gene]
  • LOC111832674:Sharpr-MPRA regulatory region 2332 [Gene]
  • LOC111946252:Sharpr-MPRA regulatory region 2566 [Gene]
  • LOC111946236:Sharpr-MPRA regulatory region 2775 [Gene]
  • LOC111946241:Sharpr-MPRA regulatory region 4527 [Gene]
  • LOC111946230:Sharpr-MPRA regulatory region 4688 [Gene]
  • LOC111946225:Sharpr-MPRA regulatory region 4915 [Gene]
  • LOC111946251:Sharpr-MPRA regulatory region 5095 [Gene]
  • LOC111946222:Sharpr-MPRA regulatory region 6046 [Gene]
  • LOC111946245:Sharpr-MPRA regulatory region 6271 [Gene]
  • LOC111946242:Sharpr-MPRA regulatory region 6566 [Gene]
  • LOC111946226:Sharpr-MPRA regulatory region 670 [Gene]
  • LOC111946224:Sharpr-MPRA regulatory region 7083 [Gene]
  • LOC111946231:Sharpr-MPRA regulatory region 97 [Gene]
  • LOC111818965:Sharpr-MPRA regulatory regions 4530 and 14147 [Gene]
  • TAF3:TATA-box binding protein associated factor 3 [Gene - OMIM - HGNC]
  • UPF2:UPF2 regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • USP6NL:USP6 N-terminal like [Gene - OMIM - HGNC]
  • VIM-AS1:VIM antisense RNA 1 [Gene - HGNC]
  • LOC110121355:VISTA enhancer hs1382 [Gene]
  • LOC110121449:VISTA enhancer hs1837 [Gene]
  • LOC110121467:VISTA enhancer hs1958 [Gene]
  • LOC110121476:VISTA enhancer hs2048 [Gene]
  • WDR37:WD repeat domain 37 [Gene - OMIM - HGNC]
  • ACBD7:acyl-CoA binding domain containing 7 [Gene - HGNC]
  • ADARB2:adenosine deaminase RNA specific B2 (inactive) [Gene - OMIM - HGNC]
  • AKR1C1:aldo-keto reductase family 1 member C1 [Gene - OMIM - HGNC]
  • AKR1C2:aldo-keto reductase family 1 member C2 [Gene - OMIM - HGNC]
  • AKR1C3:aldo-keto reductase family 1 member C3 [Gene - OMIM - HGNC]
  • AKR1C4:aldo-keto reductase family 1 member C4 [Gene - OMIM - HGNC]
  • AKR1E2:aldo-keto reductase family 1 member E2 [Gene - OMIM - HGNC]
  • ASB13:ankyrin repeat and SOCS box containing 13 [Gene - OMIM - HGNC]
  • ANKRD16:ankyrin repeat domain 16 [Gene - OMIM - HGNC]
  • ARMC3:armadillo repeat containing 3 [Gene - OMIM - HGNC]
  • CACNB2:calcium voltage-gated channel auxiliary subunit beta 2 [Gene - OMIM - HGNC]
  • CAMK1D:calcium/calmodulin dependent protein kinase ID [Gene - OMIM - HGNC]
  • CALML3:calmodulin like 3 [Gene - OMIM - HGNC]
  • CALML5:calmodulin like 5 [Gene - OMIM - HGNC]
  • CDC123:cell division cycle 123 [Gene - OMIM - HGNC]
  • CDNF:cerebral dopamine neurotrophic factor [Gene - OMIM - HGNC]
  • C10orf113:chromosome 10 open reading frame 113 [Gene - HGNC]
  • C10orf67:chromosome 10 open reading frame 67 [Gene - HGNC]
  • CCDC3:coiled-coil domain containing 3 [Gene - HGNC]
  • C1QL3:complement C1q like 3 [Gene - OMIM - HGNC]
  • CUBN:cubilin [Gene - OMIM - HGNC]
  • DHTKD1:dehydrogenase E1 and transketolase domain containing 1 [Gene - OMIM - HGNC]
  • DIP2C:disco interacting protein 2 homolog C [Gene - OMIM - HGNC]
  • EBLN1:endogenous Bornavirus like nucleoprotein 1 [Gene - OMIM - HGNC]
  • ENKUR:enkurin, TRPC channel interacting protein [Gene - OMIM - HGNC]
  • ECHDC3:enoyl-CoA hydratase domain containing 3 [Gene - HGNC]
  • FAM107B:family with sequence similarity 107 member B [Gene - HGNC]
  • FAM171A1:family with sequence similarity 171 member A1 [Gene - HGNC]
  • GAD2:glutamate decarboxylase 2 [Gene - OMIM - HGNC]
  • HSPA14:heat shock protein family A (Hsp70) member 14 [Gene - OMIM - HGNC]
  • ITGA8:integrin subunit alpha 8 [Gene - OMIM - HGNC]
  • ITIH2:inter-alpha-trypsin inhibitor heavy chain 2 [Gene - OMIM - HGNC]
  • ITIH5:inter-alpha-trypsin inhibitor heavy chain 5 [Gene - OMIM - HGNC]
  • IL15RA:interleukin 15 receptor subunit alpha [Gene - OMIM - HGNC]
  • IL2RA:interleukin 2 receptor subunit alpha [Gene - OMIM - HGNC]
  • IDI1:isopentenyl-diphosphate delta isomerase 1 [Gene - OMIM - HGNC]
  • IDI2:isopentenyl-diphosphate delta isomerase 2 [Gene - OMIM - HGNC]
  • LINP1:lncRNA in non-homologous end joining pathway 1 [Gene - HGNC]
  • LINC01516:long intergenic non-protein coding RNA 1516 [Gene - HGNC]
  • LINC01552:long intergenic non-protein coding RNA 1552 [Gene]
  • LINC00200:long intergenic non-protein coding RNA 200 [Gene - HGNC]
  • LINC02561:long intergenic non-protein coding RNA 2561 [Gene - HGNC]
  • LINC02639:long intergenic non-protein coding RNA 2639 [Gene - HGNC]
  • LINC02642:long intergenic non-protein coding RNA 2642 [Gene - HGNC]
  • LINC02643:long intergenic non-protein coding RNA 2643 [Gene - HGNC]
  • LINC02645:long intergenic non-protein coding RNA 2645 [Gene - HGNC]
  • LINC02648:long intergenic non-protein coding RNA 2648 [Gene - HGNC]
  • LINC02649:long intergenic non-protein coding RNA 2649 [Gene - HGNC]
  • LINC02654:long intergenic non-protein coding RNA 2654 [Gene - HGNC]
  • LINC02656:long intergenic non-protein coding RNA 2656 [Gene - HGNC]
  • LINC02657:long intergenic non-protein coding RNA 2657 [Gene - HGNC]
  • LINC02660:long intergenic non-protein coding RNA 2660 [Gene - HGNC]
  • LINC02662:long intergenic non-protein coding RNA 2662 [Gene - HGNC]
  • LINC02665:long intergenic non-protein coding RNA 2665 [Gene - HGNC]
  • LINC02668:long intergenic non-protein coding RNA 2668 [Gene - HGNC]
  • LINC02669:long intergenic non-protein coding RNA 2669 [Gene - HGNC]
  • LINC02670:long intergenic non-protein coding RNA 2670 [Gene - HGNC]
  • LINC02676:long intergenic non-protein coding RNA 2676 [Gene - HGNC]
  • LINC02677:long intergenic non-protein coding RNA 2677 [Gene - HGNC]
  • LINC02678:long intergenic non-protein coding RNA 2678 [Gene - HGNC]
  • LINC00700:long intergenic non-protein coding RNA 700 [Gene - HGNC]
  • LINC00701:long intergenic non-protein coding RNA 701 [Gene - HGNC]
  • LINC00702:long intergenic non-protein coding RNA 702 [Gene - HGNC]
  • LINC00703:long intergenic non-protein coding RNA 703 [Gene - HGNC]
  • LINC00705:long intergenic non-protein coding RNA 705 [Gene - HGNC]
  • LINC00706:long intergenic non-protein coding RNA 706 [Gene - HGNC]
  • LINC00707:long intergenic non-protein coding RNA 707 [Gene - HGNC]
  • LINC00708:long intergenic non-protein coding RNA 708 [Gene - HGNC]
  • LINC00709:long intergenic non-protein coding RNA 709 [Gene - HGNC]
  • LINC00710:long intergenic non-protein coding RNA 710 [Gene - HGNC]
  • LINC00836:long intergenic non-protein coding RNA 836 [Gene - HGNC]
  • MRC1:mannose receptor C-type 1 [Gene - OMIM - HGNC]
  • MEIG1:meiosis/spermiogenesis associated 1 [Gene - OMIM - HGNC]
  • MSRB2:methionine sulfoxide reductase B2 [Gene - OMIM - HGNC]
  • MIR1254-2:microRNA 1254-2 [Gene - HGNC]
  • MIR1265:microRNA 1265 [Gene - HGNC]
  • MIR1915:microRNA 1915 [Gene - OMIM - HGNC]
  • MIR3155A:microRNA 3155a [Gene - HGNC]
  • MIR3155B:microRNA 3155b [Gene - HGNC]
  • MIR4293:microRNA 4293 [Gene - HGNC]
  • MIR4480:microRNA 4480 [Gene - HGNC]
  • MIR4481:microRNA 4481 [Gene - HGNC]
  • MIR4675:microRNA 4675 [Gene - HGNC]
  • MIR511:microRNA 511 [Gene - HGNC]
  • MIR548AK:microRNA 548ak [Gene - HGNC]
  • MIR548Q:microRNA 548q [Gene - HGNC]
  • MIR5699:microRNA 5699 [Gene - HGNC]
  • MIR603:microRNA 603 [Gene - HGNC]
  • MIR6072:microRNA 6072 [Gene - HGNC]
  • MIR6078:microRNA 6078 [Gene - HGNC]
  • MCM10:minichromosome maintenance 10 replication initiation factor [Gene - OMIM - HGNC]
  • MANCR:mitotically associated long non coding RNA [Gene - HGNC]
  • LOC105376353:mucin-5AC-like [Gene]
  • MYO3A:myosin IIIA [Gene - OMIM - HGNC]
  • NEBL:nebulette [Gene - OMIM - HGNC]
  • NET1:neuroepithelial cell transforming 1 [Gene - OMIM - HGNC]
  • LOC106783505:nonconserved acetylation island sequence 45 enhancer [Gene]
  • LOC106783507:nonconserved acetylation island sequence 51 enhancer [Gene]
  • LOC106783576:nonconserved acetylation island sequence 68 enhancer [Gene]
  • NUDT5:nudix hydrolase 5 [Gene - OMIM - HGNC]
  • OLAH:oleoyl-ACP hydrolase [Gene - HGNC]
  • OPTN:optineurin [Gene - OMIM - HGNC]
  • PTF1A:pancreas associated transcription factor 1a [Gene - OMIM - HGNC]
  • PIP4K2A:phosphatidylinositol-5-phosphate 4-kinase type 2 alpha [Gene - OMIM - HGNC]
  • PFKP:phosphofructokinase, platelet [Gene - OMIM - HGNC]
  • PRTFDC1:phosphoribosyl transferase domain containing 1 [Gene - OMIM - HGNC]
  • PTER:phosphotriesterase related [Gene - OMIM - HGNC]
  • PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]
  • PITRM1:pitrilysin metallopeptidase 1 [Gene - OMIM - HGNC]
  • PLXDC2:plexin domain containing 2 [Gene - OMIM - HGNC]
  • PRPF18:pre-mRNA processing factor 18 [Gene - OMIM - HGNC]
  • PROSER2:proline and serine rich 2 [Gene - HGNC]
  • PRR26:proline rich 26 [Gene - HGNC]
  • PRKCQ:protein kinase C theta [Gene - OMIM - HGNC]
  • PRINS:psoriasis associated non-protein coding RNA induced by stress [Gene - HGNC]
  • RPP38:ribonuclease P/MRP subunit p38 [Gene - OMIM - HGNC]
  • SEPHS1:selenophosphate synthetase 1 [Gene - OMIM - HGNC]
  • STAM:signal transducing adaptor molecule [Gene - OMIM - HGNC]
  • SNORD129:small nucleolar RNA, C/D box 129 [Gene - HGNC]
  • SNORD142:small nucleolar RNA, C/D box 142 [Gene - HGNC]
  • SLC39A12:solute carrier family 39 member 12 [Gene - OMIM - HGNC]
  • SPAG6:sperm associated antigen 6 [Gene - OMIM - HGNC]
  • SUV39H2:suppressor of variegation 3-9 homolog 2 [Gene - OMIM - HGNC]
  • TRDMT1:tRNA aspartic acid methyltransferase 1 [Gene - OMIM - HGNC]
  • TRN-GTT2-3:tRNA-Asn (anticodon GTT) 2-3 [Gene - HGNC]
  • TRV-TAC3-1:tRNA-Val (anticodon TAC) 3-1 [Gene - HGNC]
  • THNSL1:threonine synthase like 1 [Gene - OMIM - HGNC]
  • TASOR2:transcription activation suppressor family member 2 [Gene - HGNC]
  • TMEM236:transmembrane protein 236 [Gene - HGNC]
  • TUBAL3:tubulin alpha like 3 [Gene - HGNC]
  • LOC100130992:uncharacterized LOC100130992 [Gene]
  • LOC100499489:uncharacterized LOC100499489 [Gene]
  • LOC101927762:uncharacterized LOC101927762 [Gene]
  • LOC101927824:uncharacterized LOC101927824 [Gene]
  • LOC101927964:uncharacterized LOC101927964 [Gene]
  • LOC101928272:uncharacterized LOC101928272 [Gene]
  • LOC101928453:uncharacterized LOC101928453 [Gene]
  • LOC101928834:uncharacterized LOC101928834 [Gene]
  • LOC101929073:uncharacterized LOC101929073 [Gene]
  • LOC101930421:uncharacterized LOC101930421 [Gene]
  • LOC105376360:uncharacterized LOC105376360 [Gene]
  • LOC105376398:uncharacterized LOC105376398 [Gene]
  • LOC105376430:uncharacterized LOC105376430 [Gene]
  • LOC105376453:uncharacterized LOC105376453 [Gene]
  • LOC107984208:uncharacterized LOC107984208 [Gene]
  • UCMA:upper zone of growth plate and cartilage matrix associated [Gene - HGNC]
  • UCN3:urocortin 3 [Gene - OMIM - HGNC]
  • VIM:vimentin [Gene - OMIM - HGNC]
  • ZMYND11:zinc finger MYND-type containing 11 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10p15.3-12.1
Genomic location:
Preferred name:
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3
HGVS:
  • NC_000010.11:g.(?_90205)_(26339978_?)dup
  • NC_000010.10:g.(?_224406)_(26628907_?)dup
  • NC_000010.9:g.(?_126145)_(26668913_?)dup
Links:
dbVar: nssv1601420; dbVar: nsv915660
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000178744ISCA site 4

See additional submitters

no assertion criteria providedPathogenic
(Sep 21, 2012)
not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000178744

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 4, SCV000178744.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jan 9, 2020

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