ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1698C>A (p.Thr566=)

gnomAD frequency: 0.00001  dbSNP: rs1320109202
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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 RCV001438757 SCV001641637 likely benign Brody myopathy 2019-08-13 criteria provided, single submitter clinical testing

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