Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426652 | SCV000534125 | likely benign | not specified | 2016-11-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000562984 | SCV000666234 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-16 | 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, |
RCV000562984 | SCV000684190 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000636189 | SCV000757621 | likely benign | Familial cancer of breast; Fanconi anemia complementation group J | 2023-12-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759706 | SCV000889208 | likely benign | not provided | 2018-01-05 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004791461 | SCV005405252 | benign | Familial cancer of breast | 2024-09-03 | 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. |
Prevention |
RCV004732881 | SCV005361370 | likely benign | BRIP1-related disorder | 2024-05-15 | 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). |