ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5817A>G (p.Glu1939=)

gnomAD frequency: 0.00006  dbSNP: rs780514937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000863109 SCV000514526 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001425530 SCV001628159 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356529 SCV002648085 benign Inborn genetic diseases 2020-06-08 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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