ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.5903-1G>A

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Total submissions: 2
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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 RCV004759485 SCV005368037 likely pathogenic Intellectual disability, autosomal dominant 45 2024-04-17 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP
Institute of Human Genetics, University of Leipzig Medical Center RCV004759484 SCV005368340 likely pathogenic Intellectual disability, autosomal dominant 1 2024-10-01 criteria provided, single submitter clinical testing Criteria applied: PVS1_STR,PS1_MOD,PM2_SUP

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