Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076227 | SCV000107250 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability <0.001 |
Invitae | RCV000524351 | SCV000262285 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000625493 | SCV000430927 | likely benign | Lynch syndrome I | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Department of Pathology and Laboratory Medicine, |
RCV000202150 | SCV000592514 | likely benign | not specified | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Color | RCV000579780 | SCV000684961 | benign | Hereditary cancer-predisposing syndrome | 2015-02-18 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000625493 | SCV000781772 | uncertain significance | Lynch syndrome I | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000202150 | SCV000806007 | benign | not specified | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000202150 | SCV000257148 | uncertain significance | not specified | no assertion criteria provided | research | ||
Genome Diagnostics Laboratory, |
RCV000625493 | SCV000745640 | benign | Lynch syndrome I | 2017-09-07 | no assertion criteria provided | clinical testing |