ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11])

dbSNP: rs759134767
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081475 SCV000283423 benign Beckwith-Wiedemann syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501668 SCV000593971 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727116 SCV000705852 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001081475 SCV002534291 uncertain significance Beckwith-Wiedemann syndrome 2021-05-25 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003919914 SCV004731554 likely benign CDKN1C-related disorder 2022-06-29 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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