ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5760C>T (p.Leu1920=)

gnomAD frequency: 0.00003  dbSNP: rs1449263336
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087308 SCV000639643 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000532434 SCV001145464 likely benign not provided 2019-06-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000532434 SCV004147147 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SCN2A: BP4

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