ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.220C>A (p.Gln74Lys)

gnomAD frequency: 0.01460  dbSNP: rs6890689
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079228 SCV000638814 likely benign Myofibrillar myopathy 3 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000615351 SCV000724412 benign not specified 2017-11-09 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.
Athena Diagnostics RCV000712368 SCV000842843 benign not provided 2017-09-28 criteria provided, single submitter clinical testing
Mendelics RCV000615351 SCV002517598 benign not specified 2022-05-04 criteria provided, single submitter clinical testing

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