Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000573488 | SCV000662553 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-26 | 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. |
Color Diagnostics, |
RCV000573488 | SCV000912498 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000630263 | SCV001470863 | likely benign | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001497560 | SCV001702294 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2020-04-10 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000886 | SCV004841994 | likely benign | Lynch syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing |