ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1110C>T (p.Thr370=)

gnomAD frequency: 0.00001  dbSNP: rs747219922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430574 SCV000522816 likely benign not specified 2016-01-14 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 RCV001465998 SCV001669997 likely benign Familial hemiplegic migraine 2021-12-20 criteria provided, single submitter clinical testing

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