Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000119243 | SCV000244514 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-01-12 | reviewed by expert panel | curation | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3339 (Asian), 0.2114 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30). |
Counsyl | RCV000119243 | SCV000154006 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-01-02 | criteria provided, single submitter | literature only | 1kG or ESP high frequency. |
Illumina Laboratory Services, |
RCV000119243 | SCV000403034 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000585679 | SCV000693620 | benign | not specified | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001689667 | SCV001910300 | benign | not provided | 2019-06-14 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001689667 | SCV005250993 | benign | not provided | criteria provided, single submitter | not provided |