ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1478C>A (p.Ser493Tyr)

dbSNP: rs1463207324
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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 RCV002012554 SCV002286821 uncertain significance Brody myopathy 2021-08-14 criteria provided, single submitter clinical testing

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