ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.252G>A (p.Arg84=)

gnomAD frequency: 0.00005  dbSNP: rs886044687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000317026 SCV000345919 uncertain significance not provided 2016-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519355 SCV003474004 likely benign Myofibrillar myopathy 3 2022-01-19 criteria provided, single submitter clinical testing

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