ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.1351G>A (p.Val451Ile) (rs150259704)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000422875 SCV000511036 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000480717 SCV000565605 likely benign not specified 2017-11-02 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 RCV001089280 SCV000633889 benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716428 SCV000847269 benign History of neurodevelopmental disorder 2018-12-01 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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