ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1548-7_1548-4del

dbSNP: rs796053349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189591 SCV000243234 benign not specified 2013-11-05 criteria provided, single submitter clinical testing The variant is found in INFANT-EPI panel(s).
Eurofins Ntd Llc (ga) RCV000189591 SCV000707483 likely benign not specified 2018-08-02 criteria provided, single submitter clinical testing
Invitae RCV000636599 SCV000758038 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262780 SCV002546082 benign not provided 2022-06-01 criteria provided, single submitter clinical testing STXBP1: BS1, BS2
Ambry Genetics RCV002399703 SCV002710115 benign Inborn genetic diseases 2016-04-15 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.

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