Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475460 | SCV000558975 | benign | Charcot-Marie-Tooth disease dominant intermediate F | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531584 | SCV001746785 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | GNB4: BP4, BP7 |
Gene |
RCV001531584 | SCV001821112 | likely benign | not provided | 2022-02-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28975462) |
ARUP Laboratories, |
RCV000475460 | SCV002049809 | likely benign | Charcot-Marie-Tooth disease dominant intermediate F | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411542 | SCV002723491 | likely benign | Inborn genetic diseases | 2019-07-11 | 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. |