ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)

dbSNP: rs2132444703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507756 SCV001713500 likely pathogenic not provided 2019-05-26 criteria provided, single submitter clinical testing PVS1, PM2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387533 SCV004099169 pathogenic Developmental and epileptic encephalopathy, 4 2023-09-25 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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