ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2710-19C>G

gnomAD frequency: 0.00003  dbSNP: rs757662486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613185 SCV000729521 likely benign not specified 2018-01-15 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 RCV002066706 SCV002392119 likely benign Familial hemiplegic migraine 2024-12-28 criteria provided, single submitter clinical testing

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