ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.38-3T>C

gnomAD frequency: 0.01315  dbSNP: rs138763389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000147704 SCV000171901 benign not specified 2012-03-30 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.
Invitae RCV000230972 SCV000287896 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713557 SCV000844179 benign not provided 2017-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312619 SCV000845962 benign Inborn genetic diseases 2016-02-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV000147704 SCV000195160 likely benign not specified no assertion criteria provided clinical testing

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