ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3624T>C (p.Asn1208=)

gnomAD frequency: 0.00002  dbSNP: rs552725434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532610 SCV000639624 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316544 SCV000851335 likely benign Inborn genetic diseases 2016-11-14 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.
GeneDx RCV001712503 SCV001944427 likely benign not provided 2020-06-29 criteria provided, single submitter clinical testing

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