ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.144A>C (p.Thr48=)

dbSNP: rs1462537561
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616990 SCV000726261 likely benign not specified 2018-01-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001468836 SCV001672901 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-11-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000616990 SCV002071589 uncertain significance not specified 2017-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584773 SCV005075679 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing STXBP1: PM2:Supporting, BP4, BP7

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