ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2219T>C (p.Ile740Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336521 SCV001529923 uncertain significance Generalized epilepsy with febrile seizures plus, type 7 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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