ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5889C>T (p.Thr1963=)

gnomAD frequency: 0.00001  dbSNP: rs776509462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997271 SCV001152499 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068732 SCV002479954 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354908 SCV002652527 likely benign Inborn genetic diseases 2024-11-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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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