ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.250G>A (p.Val84Ile)

gnomAD frequency: 0.00033  dbSNP: rs34830702
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189584 SCV000243227 benign not specified 2016-07-05 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.
Genetic Services Laboratory, University of Chicago RCV000189584 SCV000249067 benign not specified 2019-07-11 criteria provided, single submitter clinical testing
Invitae RCV001088539 SCV000826700 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317654 SCV000850913 benign Inborn genetic diseases 2017-01-05 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.
CeGaT Center for Human Genetics Tuebingen RCV000698059 SCV001155728 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553036 SCV004742233 benign STXBP1-related disorder 2020-08-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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