ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1766C>T (p.Thr589Met)

gnomAD frequency: 0.00009  dbSNP: rs200285714
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875025 SCV001017291 likely benign Brody myopathy 2024-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000875025 SCV003834424 uncertain significance Brody myopathy 2021-02-11 criteria provided, single submitter clinical testing

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