ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.952G>A (p.Glu318Lys)

gnomAD frequency: 0.00024  dbSNP: rs149987700
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000992885 SCV000242831 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31780880)
Invitae RCV000557992 SCV000639651 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992885 SCV001145466 likely benign not provided 2019-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372154 SCV002686779 likely benign Inborn genetic diseases 2019-05-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Revvity Omics, Revvity RCV000992885 SCV003820759 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing

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