ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12])

dbSNP: rs1380480846
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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 RCV000628572 SCV000749474 likely benign Beckwith-Wiedemann syndrome 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424199 SCV004117980 uncertain significance CDKN1C-related disorder 2023-04-20 criteria provided, single submitter clinical testing The CDKN1C c.630_641dup12 variant is predicted to result in an in-frame duplication (p.Ala213_Pro216dup). 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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