Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226323 | SCV000288138 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000603740 | SCV000715605 | likely benign | not specified | 2017-02-03 | 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 | RCV001022667 | SCV001184427 | likely benign | Hereditary cancer-predisposing syndrome | 2018-05-29 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477821 | SCV004220305 | likely benign | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing |