ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.381+12C>T

gnomAD frequency: 0.00014  dbSNP: rs368856029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444647 SCV000521741 likely benign not specified 2017-04-05 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 RCV002065001 SCV002332843 likely benign Familial hemiplegic migraine 2024-12-22 criteria provided, single submitter clinical testing

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