ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.480G>A (p.Gly160=)

gnomAD frequency: 0.00021  dbSNP: rs145762940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001110054 SCV001267440 benign Hidrotic ectodermal dysplasia syndrome 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001732045 SCV001983896 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26046157)
Invitae RCV002555071 SCV003016693 likely benign Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome 2022-05-05 criteria provided, single submitter clinical testing

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