ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly)

dbSNP: rs2123205311
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Total submissions: 2
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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 RCV001706883 SCV001934437 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).
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223425 SCV003918925 pathogenic Intellectual disability, severe 2023-04-20 criteria provided, single submitter research

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