ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=)

gnomAD frequency: 0.00003  dbSNP: rs1176622466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001443078 SCV001646040 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000533868 SCV001944426 benign not provided 2015-09-10 criteria provided, single submitter clinical testing

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