ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4590G>A (p.Met1530Ile)

gnomAD frequency: 0.00003  dbSNP: rs771231471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704663 SCV000618230 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Invitae RCV001513915 SCV001721619 benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001704663 SCV004237186 uncertain significance not provided 2021-01-11 criteria provided, single submitter clinical testing

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