ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys)

gnomAD frequency: 0.00003  dbSNP: rs140157424
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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 RCV001133414 SCV001293114 likely benign Autosomal dominant nonsyndromic hearing loss 4A 2017-07-21 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Mendelics RCV002249737 SCV002518331 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558699 SCV004298437 likely benign not provided 2023-05-11 criteria provided, single submitter clinical testing

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