ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9])

dbSNP: rs1060503860
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628570 SCV000749472 benign Beckwith-Wiedemann syndrome 2024-01-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732322 SCV000860258 likely benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000628570 SCV002534281 likely benign Beckwith-Wiedemann syndrome 2021-03-28 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003892408 SCV004710031 likely benign CDKN1C-related condition 2023-04-05 criteria provided, single submitter 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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