ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)

gnomAD frequency: 0.00143  dbSNP: rs540923047
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233580 SCV000283426 benign Beckwith-Wiedemann syndrome 2024-01-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593067 SCV000705639 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV001731457 SCV001982227 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000233580 SCV002534292 likely benign Beckwith-Wiedemann syndrome 2021-08-04 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503886 SCV002797807 likely benign Beckwith-Wiedemann syndrome; IMAGe syndrome 2021-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907845 SCV004723222 benign CDKN1C-related disorder 2023-01-10 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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