ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)

dbSNP: rs1588302912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988248 SCV001137899 likely pathogenic Developmental and epileptic encephalopathy, 4 2019-05-28 criteria provided, single submitter clinical testing
Pediatric Genetics Clinic, Sheba Medical Center RCV000988248 SCV001712232 pathogenic Developmental and epileptic encephalopathy, 4 2021-05-13 no assertion criteria provided clinical testing

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