ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4138-13C>T

gnomAD frequency: 0.00034  dbSNP: rs183327883
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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 RCV000347452 SCV000414434 likely benign Autosomal dominant nonsyndromic hearing loss 4A 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 RCV001571805 SCV001796341 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Invitae RCV001571805 SCV002411053 benign not provided 2023-10-22 criteria provided, single submitter clinical testing

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