ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)

gnomAD frequency: 0.00140  dbSNP: rs201337011
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000310107 SCV000341413 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000365020 SCV000414403 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.
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000310107 SCV000966467 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala811Val in Exon 21 of MYH14: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (18/3216) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).
Baylor Genetics RCV001336652 SCV001530091 uncertain significance Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2018-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001564648 SCV001787845 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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