ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.270G>T (p.Thr90=)

gnomAD frequency: 0.00001  dbSNP: rs371712630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724363 SCV000227424 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Invitae RCV001088438 SCV000557003 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000724363 SCV000716409 benign not provided 2020-08-04 criteria provided, single submitter clinical testing

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