Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194918 | SCV000247228 | uncertain significance | not specified | 2015-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000467298 | SCV000559781 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000194918 | SCV000613174 | benign | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000194918 | SCV000705060 | likely benign | not specified | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194918 | SCV000714027 | benign | not specified | 2017-06-02 | 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 | RCV002314809 | SCV000848936 | likely benign | Inborn genetic diseases | 2016-07-01 | 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. |