ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del)

dbSNP: rs1590149645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875935 SCV001018424 likely benign Beckwith-Wiedemann syndrome 2023-11-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948242 SCV004760341 uncertain significance CDKN1C-related condition 2024-01-13 criteria provided, single submitter clinical testing The CDKN1C c.579_602del24 variant is predicted to result in an in-frame deletion (p.Val195_Pro202del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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