Total submissions: 2
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 | |
Prevention |
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. |