ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.903-4C>G

gnomAD frequency: 0.00016  dbSNP: rs369625158
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420337 SCV000514813 benign not specified 2015-07-09 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 RCV000420337 SCV000597311 likely benign not specified 2015-11-13 criteria provided, single submitter clinical testing
Invitae RCV000556322 SCV000633907 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551430 SCV004750501 likely benign STXBP1-related disorder 2019-06-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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