Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000162678 | SCV000213129 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-17 | 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. |
Counsyl | RCV000412045 | SCV000488541 | likely benign | Familial cancer of breast | 2016-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412045 | SCV000560992 | likely benign | Familial cancer of breast | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162678 | SCV000684645 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174909 | SCV001338341 | likely benign | not specified | 2020-02-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711324 | SCV001946046 | benign | not provided | 2015-09-02 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001174909 | SCV002070797 | likely benign | not specified | 2019-06-12 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162678 | SCV002537440 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-20 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001711324 | SCV002774140 | likely benign | not provided | 2021-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000412045 | SCV004020086 | benign | Familial cancer of breast | 2023-03-08 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |