ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.1323C>T (p.Thr441=)

gnomAD frequency: 0.00001  dbSNP: rs745749841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613892 SCV000727941 likely benign not specified 2018-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066617 SCV002383692 likely benign Brody myopathy 2022-08-23 criteria provided, single submitter clinical testing

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