ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.4741G>A (p.Val1581Ile)

gnomAD frequency: 0.01091  dbSNP: rs680446
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Total submissions: 5
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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 RCV000037046 SCV000060702 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Val1581Ile in Exon 34 of MYH14: This variant is not expected to have clinical si gnificance because it has been identified in 2.7% (96/3506) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs680446).
PreventionGenetics, part of Exact Sciences RCV000037046 SCV000306866 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367281 SCV000414443 benign Autosomal dominant nonsyndromic hearing loss 4A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000881669 SCV001024859 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000881669 SCV001757942 benign not provided 2018-07-06 criteria provided, single submitter clinical testing

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