ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3435G>A (p.Thr1145=)

gnomAD frequency: 0.00001  dbSNP: rs1345931602
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718958 SCV000722598 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Invitae RCV002065267 SCV002426508 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-01-17 criteria provided, single submitter clinical testing

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