Total submissions: 22
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000030259 | SCV000107841 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability <0.001 |
Gene |
RCV000121576 | SCV000170351 | benign | not specified | 2013-10-21 | 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 | RCV000157762 | SCV000212712 | benign | Hereditary cancer-predisposing syndrome | 2014-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083342 | SCV000262452 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Vantari Genetics | RCV000157762 | SCV000267054 | benign | Hereditary cancer-predisposing syndrome | 2015-12-03 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000030259 | SCV000296878 | benign | Lynch syndrome | 2015-09-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000121576 | SCV000302868 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000625241 | SCV000430960 | likely benign | Hereditary nonpolyposis colorectal cancer type 5 | 2018-03-06 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Color | RCV000157762 | SCV000537391 | benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000121576 | SCV000592581 | benign | not specified | 2013-08-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000121576 | SCV000595841 | benign | not specified | 2017-06-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000121576 | SCV000604277 | benign | not specified | 2018-07-23 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000625241 | SCV000744290 | benign | Hereditary nonpolyposis colorectal cancer type 5 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000625241 | SCV000745648 | benign | Hereditary nonpolyposis colorectal cancer type 5 | 2016-07-11 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000625241 | SCV000781786 | likely benign | Hereditary nonpolyposis colorectal cancer type 5 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000625241 | SCV001135803 | likely benign | Hereditary nonpolyposis colorectal cancer type 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034490 | SCV000043352 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Integrated Genetics/Laboratory Corporation of America | RCV000030259 | SCV000052926 | benign | Lynch syndrome | 2013-10-16 | no assertion criteria provided | clinical testing | |
ITMI | RCV000121576 | SCV000085772 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Pathway Genomics | RCV000144628 | SCV000189955 | benign | Lynch syndrome I | 2014-07-24 | no assertion criteria provided | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000121576 | SCV000257209 | benign | not specified | no assertion criteria provided | clinical testing | ||
True Health Diagnostics | RCV000157762 | SCV000788042 | benign | Hereditary cancer-predisposing syndrome | 2018-02-20 | no assertion criteria provided | clinical testing |