ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.579C>T (p.Pro193=)

gnomAD frequency: 0.00005  dbSNP: rs764289898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445729 SCV001648763 likely benign Brody myopathy 2024-12-24 criteria provided, single submitter clinical testing

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