Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081086 | SCV000153860 | benign | Familial adenomatous polyposis 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000131961 | SCV000187018 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Prevention |
RCV000254138 | SCV000301594 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000361337 | SCV000452010 | benign | APC-Associated Polyposis Disorders | 2018-01-13 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV000254138 | SCV000591167 | benign | not specified | 2012-10-25 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000254138 | SCV000602525 | benign | not specified | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000512763 | SCV000609170 | likely benign | not provided | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Color | RCV000131961 | SCV000681660 | benign | Hereditary cancer-predisposing syndrome | 2016-03-17 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000254138 | SCV000691748 | likely benign | not specified | no assertion criteria provided | clinical testing | ||
True Health Diagnostics | RCV000131961 | SCV000693482 | benign | Hereditary cancer-predisposing syndrome | 2017-09-28 | no assertion criteria provided | clinical testing |