ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.3031T>C (p.Cys1011Arg)

dbSNP: rs2037707528
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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 RCV001332025 SCV001524211 uncertain significance Intellectual disability, autosomal dominant 45 2020-01-13 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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