ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.15G>A (p.Thr5=)

gnomAD frequency: 0.00113  dbSNP: rs150075979
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038706 SCV000062384 benign not specified 2015-06-16 criteria provided, single submitter clinical testing Thr5Thr in Exon 03 of GJB6: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue, is not located within th e splice consensus sequence, and has been identified in 0.4% (43/10158) of Afric an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs150075979).
Eurofins Ntd Llc (ga) RCV000723383 SCV000229107 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112813 SCV001270511 likely benign Hidrotic ectodermal dysplasia syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000723383 SCV001802661 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18024254)
Labcorp Genetics (formerly Invitae), Labcorp RCV002054714 SCV002392598 benign Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 2021-02-11 criteria provided, single submitter clinical testing

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