Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163111 | SCV000213621 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-19 | 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. |
Labcorp Genetics |
RCV000228014 | SCV000282978 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000500341 | SCV000593475 | likely benign | not specified | 2016-12-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163111 | SCV000903076 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711435 | SCV001939417 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798569 | SCV002042658 | likely benign | Breast and/or ovarian cancer | 2020-05-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163111 | SCV002527856 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-12 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000500341 | SCV003844215 | likely benign | not specified | 2023-02-25 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004589699 | SCV005084052 | benign | Familial cancer of breast | 2024-04-19 | 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. |
Breakthrough Genomics, |
RCV001711435 | SCV005213505 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV001711435 | SCV005412448 | uncertain significance | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001711435 | SCV002034501 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001711435 | SCV002037339 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004551385 | SCV004721816 | likely benign | ATM-related disorder | 2024-02-28 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |