ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.822T>C (p.Ser274=)

gnomAD frequency: 0.00195  dbSNP: rs138678049
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252494 SCV000311595 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252494 SCV000338092 benign not specified 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000712369 SCV000529954 benign not provided 2018-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088508 SCV000638823 benign Myofibrillar myopathy 3 2025-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000252494 SCV000842844 benign not specified 2024-05-20 criteria provided, single submitter clinical testing

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