ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.3585G>T (p.Val1195=)

dbSNP: rs372169216
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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 RCV000155218 SCV000204904 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val1195Val in Exon 30 of MYO3A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000725894 SCV000340311 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000725894 SCV001756142 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725894 SCV003242208 likely benign not provided 2024-02-26 criteria provided, single submitter clinical testing

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