ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=)

dbSNP: rs1689327411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171716 SCV001334546 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV001474960 SCV001679138 likely benign Early infantile epileptic encephalopathy with suppression bursts 2022-02-03 criteria provided, single submitter clinical testing

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