Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000411296 | SCV000579177 | likely benign | Breast-ovarian cancer, familial 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/). |
Gene |
RCV000124006 | SCV000167407 | benign | not specified | 2014-05-09 | 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 | RCV000163230 | SCV000213755 | 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: 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 | RCV001084044 | SCV000252614 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411296 | SCV000488735 | likely benign | Breast-ovarian cancer, familial 2 | 2016-06-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000124006 | SCV000602825 | benign | not specified | 2016-11-17 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000163230 | SCV000683947 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-17 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000124006 | SCV000695131 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000586776 | SCV000887931 | benign | not provided | 2018-12-23 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000411296 | SCV001271929 | likely benign | Breast-ovarian cancer, familial 2 | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Clinical Services Laboratory, |
RCV001114097 | SCV001271930 | uncertain significance | Fanconi anemia, complementation group D1 | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |