ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.561G>A (p.Pro187=)

dbSNP: rs1848937184
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183468 SCV002478067 likely benign Beckwith-Wiedemann syndrome 2022-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896020 SCV004714226 likely benign CDKN1C-related disorder 2022-07-15 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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