ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)

gnomAD frequency: 0.00312  dbSNP: rs143766955
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Total submissions: 6
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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 RCV000168675 SCV000269132 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn113Lys in Exon 03 of GJB6: This variant is not expected to have clinical sign ificance because it has been identified in 1.2% (44/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs143766955).
Labcorp Genetics (formerly Invitae), Labcorp RCV001078575 SCV000767482 benign Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 2024-01-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000168675 SCV000854778 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000840681 SCV000982610 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24706568)
Illumina Laboratory Services, Illumina RCV001110824 SCV001268306 likely benign Hidrotic ectodermal dysplasia syndrome 2017-09-06 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.
Breakthrough Genomics, Breakthrough Genomics RCV000840681 SCV005219309 likely benign not provided criteria provided, single submitter not provided

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