ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.43C>T (p.Arg15Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003436223 SCV004147120 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003778409 SCV004585010 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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