Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562568 | SCV000676053 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000604587 | SCV000696119 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706678 | SCV000724977 | likely benign | not provided | 2020-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000871548 | SCV001013225 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001193 | SCV004833615 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |