Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698327 | SCV000534489 | likely benign | not provided | 2020-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000464517 | SCV000558673 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574065 | SCV000671036 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-06 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002282145 | SCV002570725 | likely benign | not specified | 2022-07-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003899894 | SCV004716941 | likely benign | POLD1-related condition | 2021-05-09 | 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). |