ClinVar Miner

Submissions for variant NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)

dbSNP: rs2123205373
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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 RCV001706891 SCV001934449 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-07-15 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468640 SCV002764899 likely pathogenic Global developmental delay; Seizure; Optic atrophy; Stereotypic movement disorder; Microcephaly 2021-03-22 criteria provided, single submitter clinical testing

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