ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.*5+18dup

dbSNP: rs34289096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579285 SCV001806757 benign Beckwith-Wiedemann syndrome 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579286 SCV001806758 benign IMAGe syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001651096 SCV001869980 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891828 SCV000301908 benign CDKN1C-related disorder 2024-09-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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