ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.2182C>T (p.Pro728Ser)

gnomAD frequency: 0.00007  dbSNP: rs970794792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837382 SCV002097954 uncertain significance Intellectual disability, autosomal dominant 45 2021-02-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892881 SCV004714735 likely benign CIC-related disorder 2023-02-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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