Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597249 | SCV000704002 | uncertain significance | not provided | 2016-12-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086165 | SCV001013046 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413674 | SCV002721935 | likely benign | Inborn genetic diseases | 2020-12-14 | 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. |