Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165379 | SCV000216106 | likely benign | Hereditary cancer-predisposing syndrome | 2014-07-18 | 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. |
Invitae | RCV000530664 | SCV000625610 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001260394 | SCV001437363 | likely benign | not specified | 2020-09-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640235 | SCV001857784 | likely benign | not provided | 2019-01-07 | criteria provided, single submitter | clinical testing |