ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val)

dbSNP: rs1702022330
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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 RCV001352350 SCV001546897 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493814 SCV002785583 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 2021-07-02 criteria provided, single submitter clinical testing

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