Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548062 | SCV000644077 | likely benign | Charcot-Marie-Tooth disease type 4A | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384161 | SCV002669704 | 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. |
Ce |
RCV003884619 | SCV004701571 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | GDAP1: BP4 |