Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555319 | SCV000623164 | likely benign | Beckwith-Wiedemann syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003403245 | SCV004121500 | uncertain significance | CDKN1C-related condition | 2022-10-14 | criteria provided, single submitter | clinical testing | The CDKN1C c.573_578dup6 variant is predicted to result in an in-frame duplication (p.Ala193_Pro194dup). To our knowledge, this particular variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. However, other variants resulting in the same impact on the protein (p.Ala193_Pro194dup) has been reported in a total of 4 heterozygous individuals in gnomAD (https://gnomad.broadinstitute.org/region/11-2906121-2906161). Furthermore, this variant is interpreted as likely benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/454015/). While we suspect this variant to be benign, at this time we interpret its clinical significance as uncertain due to the absence of conclusive functional and genetic evidence. |