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GRCh37/hg19 2q13(chr2:110504318-110983418)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000446820.1

Allele description

GRCh37/hg19 2q13(chr2:110504318-110983418)x1

Genes:
LIMS3:LIM zinc finger domain containing 3 [Gene - HGNC]
RGPD5:RANBP2 like and GRIP domain containing 5 [Gene - OMIM - HGNC]
MALL:mal, T cell differentiation protein like [Gene - OMIM - HGNC]
NPHP1:nephrocystin 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q13
Genomic location:
Chr2: 110504318 - 110983418 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q13(chr2:110504318-110983418)x1
HGVS:
NC_000002.11:g.(?_110504318)_(110983418_?)del
Links:
dbVar: nssv13641586; dbVar: nssv13651447; dbVar: nsv2778358
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000502781ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
no assertion criteria provided
Uncertain significancenot providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000502781.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Feb 20, 2022