Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428047 | SCV000527164 | likely benign | not specified | 2016-04-26 | 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. |
Invitae | RCV000475899 | SCV000562198 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-04-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000572534 | SCV000663508 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-15 | 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 Diagnostics, |
RCV000572534 | SCV000686106 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284034 | SCV001469602 | likely benign | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing |