GRCh38/hg38 6q13(chr6:71845502-72098192)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Oct 19, 2010)

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:
RCV000135861.4

Allele description [Variation Report for GRCh38/hg38 6q13(chr6:71845502-72098192)x1]

GRCh38/hg38 6q13(chr6:71845502-72098192)x1

Gene:
RIMS1:regulating synaptic membrane exocytosis 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q13
Genomic location:
Preferred name:
GRCh38/hg38 6q13(chr6:71845502-72098192)x1
HGVS:
  • NC_000006.12:g.(?_71845502)_(72098192_?)del
  • NC_000006.10:g.(?_72611926)_(72864616_?)del
  • NC_000006.11:g.(?_72555205)_(72807895_?)del
Links:
dbVar: nssv582246; dbVar: nsv533140
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
SCV000175866ISCA site 8

See additional submitters

no assertion criteria providedPathogenic
(Oct 19, 2010)
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.

SCV000175866

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 8, SCV000175866.3

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

Last Updated: Sep 29, 2021

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