ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1133C>T (p.Ser378Leu)

gnomAD frequency: 0.00011  dbSNP: rs150806988
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000906878 SCV001051543 likely benign not provided 2023-08-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001136434 SCV001296270 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000906878 SCV001783572 likely benign not provided 2020-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912956 SCV004745271 likely benign MYH14-related condition 2019-10-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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