Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000410435 | SCV000579071 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Ambry Genetics | RCV000163364 | SCV000213901 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-17 | 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. |
Invitae | RCV000206590 | SCV000260960 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410435 | SCV000488671 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-05-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000858025 | SCV000512353 | likely benign | not provided | 2019-12-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28477318) |
Color Diagnostics, |
RCV000163364 | SCV000683536 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000419823 | SCV000694678 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000858025 | SCV001133748 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000410435 | SCV001271418 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2018-02-15 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001113629 | SCV001271419 | likely benign | Fanconi anemia complementation group D1 | 2018-02-15 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ARUP Laboratories, |
RCV000858025 | SCV003799769 | likely benign | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Foulkes Cancer Genetics LDI, |
RCV000735539 | SCV000863677 | uncertain significance | Breast and/or ovarian cancer | 2014-09-15 | no assertion criteria provided | clinical testing | |
Institute for Biomarker Research, |
RCV000206590 | SCV002506608 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-03-10 | no assertion criteria provided | clinical testing |