ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.6173C>G (p.Thr2058Ser)

dbSNP: rs2038239333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262805 SCV001440809 likely benign Intellectual disability, autosomal dominant 45 2019-01-01 criteria provided, single submitter clinical testing

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