Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875725 | SCV001018193 | likely benign | Fanconi anemia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399959 | SCV002706812 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003930427 | SCV004749313 | likely benign | FANCC-related condition | 2022-10-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001271436 | SCV001452567 | likely benign | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |