ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2187T>C (p.Ile729=)

gnomAD frequency: 0.00001  dbSNP: rs751808345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000303296 SCV000332405 uncertain significance not provided 2015-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059082 SCV002394641 likely benign Familial hemiplegic migraine 2024-12-15 criteria provided, single submitter clinical testing

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