Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862611 | SCV001003136 | benign | Charcot-Marie-Tooth disease type 2 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172997 | SCV001336072 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Ce |
RCV001726347 | SCV001961078 | uncertain significance | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001726347 | SCV002504655 | likely benign | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV002399864 | SCV002708240 | likely benign | Inborn genetic diseases | 2019-09-16 | 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. |