ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1999-4A>T

gnomAD frequency: 0.00004  dbSNP: rs765240974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556255 SCV000633956 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001637069 SCV001852233 benign not provided 2020-07-04 criteria provided, single submitter clinical testing

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