Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000430981 | SCV000512971 | likely benign | not specified | 2018-01-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000471086 | SCV000560621 | likely benign | Fanconi anemia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018770 | SCV001180045 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-11 | 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 |
RCV003950350 | SCV004763685 | likely benign | FANCC-related condition | 2019-03-07 | 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, |
RCV001274472 | SCV001458695 | likely benign | Fanconi anemia complementation group C | 2020-09-16 | no assertion criteria provided | clinical testing |