Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000781994 | SCV000920451 | likely benign | Lynch syndrome | 2018-10-18 | reviewed by expert panel | curation | No effect on splicing & Multifactorial Posterior Probabilty = 0.006 |
Invitae | RCV000205930 | SCV000260540 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000504199 | SCV000592358 | likely benign | not specified | 2012-12-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000504199 | SCV000601400 | uncertain significance | not specified | 2016-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575797 | SCV000669525 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-19 | 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. |
Color | RCV000575797 | SCV000684830 | likely benign | Hereditary cancer-predisposing syndrome | 2015-05-29 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000662701 | SCV000785445 | uncertain significance | Lynch syndrome II | 2017-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000575797 | SCV000821798 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000662701 | SCV001136376 | benign | Lynch syndrome II | 2019-05-28 | criteria provided, single submitter | clinical testing |