ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.594G>A (p.Val198=)

gnomAD frequency: 0.00011  dbSNP: rs372287923
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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) RCV000734882 SCV000863060 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000734882 SCV000982645 likely benign not provided 2018-03-22 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.
Invitae RCV001084419 SCV001100665 likely benign Myofibrillar myopathy 3 2022-07-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000734882 SCV001929607 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000734882 SCV001954727 likely benign not provided no assertion criteria provided clinical testing

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