ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)

dbSNP: rs1555794286
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Total submissions: 3
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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 RCV001706282 SCV001934429 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).
Ambry Genetics RCV004020985 SCV005020267 likely pathogenic Inborn genetic diseases 2018-09-21 criteria provided, single submitter clinical testing formerly reported from HGMD as NM_130811 c.200T>A
OMIM RCV000170319 SCV000222706 pathogenic Congenital myasthenic syndrome 18 2014-12-09 no assertion criteria provided literature only

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