Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001429685 | SCV001632402 | likely benign | Fanconi anemia complementation group O | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004528323 | SCV004109967 | uncertain significance | RAD51C-related disorder | 2023-04-24 | criteria provided, single submitter | clinical testing | The RAD51C c.681A>G variant is not predicted to result in an amino acid change (p.=). This variant is predicted to interfere with splicing (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-56780666-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |