ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=)

gnomAD frequency: 0.00001  dbSNP: rs756798259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001485558 SCV001689995 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-07-15 criteria provided, single submitter clinical testing

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