Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130015 | SCV000184840 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-20 | 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. |
Gene |
RCV000189914 | SCV000243575 | likely benign | not specified | 2018-01-31 | 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 | RCV000471098 | SCV000556524 | benign | Tuberous sclerosis 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000471098 | SCV002039304 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477541 | SCV004221428 | uncertain significance | not provided | 2014-11-03 | criteria provided, single submitter | clinical testing |