ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.2721C>T (p.Ile907=)

gnomAD frequency: 0.00003  dbSNP: rs541644982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001463553 SCV001667499 likely benign Brody myopathy 2024-08-15 criteria provided, single submitter clinical testing
GeneDx RCV000928920 SCV002013324 likely benign not provided 2021-11-05 criteria provided, single submitter clinical testing

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