ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1989C>T (p.His663=)

gnomAD frequency: 0.00001  dbSNP: rs765006961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001398098 SCV001599864 likely benign Familial hemiplegic migraine 2023-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001569567 SCV001793673 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001569567 SCV004699812 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ATP1A2: BP4, BP7

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