ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.596C>T (p.Ala199Val)

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
Genomic Medicine Lab, University of California San Francisco RCV001375964 SCV001572956 uncertain significance Congenital myasthenic syndrome 18 2019-04-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001706730 SCV001934438 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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