ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003885422 SCV004698097 uncertain significance Seizures, benign familial infantile, 3 2024-02-23 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP2,PP3

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