ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1288G>A (p.Val430Ile)

gnomAD frequency: 0.00003  dbSNP: rs370111257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707488 SCV000836587 likely benign Familial hemiplegic migraine 2023-08-14 criteria provided, single submitter clinical testing

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