Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440283 | SCV000531994 | likely benign | not specified | 2016-09-19 | 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. |
Ambry Genetics | RCV000573836 | SCV000665148 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-25 | 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, |
RCV000440283 | SCV001339113 | likely benign | not specified | 2020-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001399289 | SCV001601075 | likely benign | Hereditary breast ovarian cancer syndrome | 2020-11-05 | criteria provided, single submitter | clinical testing |