Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000213596 | SCV000279258 | benign | not specified | 2018-02-19 | 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 | RCV000551749 | SCV000658919 | likely benign | Charcot-Marie-Tooth Neuropathy X | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362778 | SCV002667032 | likely benign | Inborn genetic diseases | 2020-05-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Fulgent Genetics, |
RCV002483279 | SCV002804179 | likely benign | Charcot-Marie-Tooth disease X-linked dominant 1 | 2022-04-12 | criteria provided, single submitter | clinical testing | |
Dept. |
RCV000144863 | SCV000172134 | pathogenic | Charcot-Marie-Tooth disease | 2013-11-01 | no assertion criteria provided | research | pathogenic in males not in females |
Natera, |
RCV000144863 | SCV002087253 | likely benign | Charcot-Marie-Tooth disease | 2020-01-22 | no assertion criteria provided | clinical testing |