ClinVar Miner

Submissions for variant NM_134261.3(RORA):c.1210T>C (p.Phe404Leu)

dbSNP: rs2065315266
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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 RCV001332867 SCV001525306 uncertain significance Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 2019-03-28 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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