Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433680 | SCV000526008 | benign | not specified | 2016-12-05 | 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 | RCV000477281 | SCV000559808 | benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000433680 | SCV000613166 | benign | not specified | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313083 | SCV000848630 | likely benign | Inborn genetic diseases | 2016-04-15 | 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. |
Molecular Genetics Laboratory, |
RCV001173867 | SCV001336983 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ce |
RCV003409597 | SCV004135182 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7, BS1 |