Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000551719 | SCV000652078 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704681 | SCV000715436 | likely benign | not provided | 2020-11-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23515051) |
Ambry Genetics | RCV002404532 | SCV002713287 | likely benign | Inborn genetic diseases | 2020-02-03 | 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. |
Fulgent Genetics, |
RCV000551719 | SCV002797811 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2021-08-02 | criteria provided, single submitter | clinical testing |