ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.519A>G (p.Lys173=)

dbSNP: rs200941759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466837 SCV000562139 benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001618710 SCV001847233 benign not provided 2020-04-09 criteria provided, single submitter clinical testing

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