ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1974C>T (p.Phe658=)

gnomAD frequency: 0.00306  dbSNP: rs61626938
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704451 SCV000530268 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000541745 SCV000638285 benign Brody myopathy 2025-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000439639 SCV001879931 benign not specified 2021-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001704451 SCV005215741 likely benign not provided criteria provided, single submitter not provided

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