ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1386C>G (p.Leu462=)

gnomAD frequency: 0.00001  dbSNP: rs756723923
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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 RCV001477883 SCV001682136 likely benign Brody myopathy 2019-06-23 criteria provided, single submitter clinical testing

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