ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr)

dbSNP: rs2123205099
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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 RCV001706882 SCV001934435 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-07-15 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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