ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.-15T>A

gnomAD frequency: 0.08552  dbSNP: rs11014875
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Total submissions: 4
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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 RCV000039018 SCV000062696 benign not specified 2012-05-07 criteria provided, single submitter clinical testing -15T>A in Exon 03 of MYO3A: This variant is not expected to have clinical signif icance because it has been identified in 16.8% (627/3736) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washingt
PreventionGenetics, part of Exact Sciences RCV000039018 SCV000312803 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368690 SCV000361899 benign Autosomal recessive nonsyndromic hearing loss 30 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.
GeneDx RCV000039018 SCV000714686 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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