Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000129405 | SCV000184174 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-06 | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000585947 | SCV000695251 | uncertain significance | not specified | 2019-08-15 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.9547A>G (p.Ile3183Val) results in a conservative amino acid change located in the BRCA2, OB3 domain (IPR015188) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251384 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.9547A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) classified the variant as Likely benign (2x) and Benign (1x). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Invitae | RCV000637985 | SCV000759465 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-25 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000129405 | SCV000906822 | benign | Hereditary cancer-predisposing syndrome | 2016-10-17 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV000129405 | SCV002532045 | benign | Hereditary cancer-predisposing syndrome | 2020-08-26 | criteria provided, single submitter | curation | |
| Sharing Clinical Reports Project |
RCV000083004 | SCV000115078 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2010-09-28 | no assertion criteria provided | clinical testing |