ClinVar Miner

Submissions for variant NM_001376.5:c.(4883+1_4884-1)_(8177+1_8178-1)del

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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 RCV002267677 SCV002549832 uncertain significance Intellectual disability, autosomal dominant 13 2022-06-21 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)_x000D_ Criteria applied: PM4_STR, PM2_SUP

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