ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2645C>T (p.Ala882Val)

gnomAD frequency: 0.00021  dbSNP: rs202065396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001132287 SCV001291942 likely benign Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001402820 SCV001604677 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001402820 SCV001815567 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001402820 SCV004140514 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing MYH14: BS2

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