ClinVar Miner

Submissions for variant NC_000011.10:g.(?_2883979)_(2885755_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000708423 SCV000837533 pathogenic Beckwith-Wiedemann syndrome 2022-10-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CDKN1C gene has been identified. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of CDKN1C have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 19843502). For these reasons, this variant has been classified as Pathogenic.

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