ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.3295C>T (p.Arg1099Cys)

dbSNP: rs767502801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197650 SCV001368429 uncertain significance Intellectual disability, autosomal dominant 45 2020-01-29 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.

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