ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.220-14C>T

gnomAD frequency: 0.00001  dbSNP: rs772144515
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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 RCV001956390 SCV002246520 likely benign Brody myopathy 2024-08-07 criteria provided, single submitter clinical testing

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