Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649964 | SCV000771801 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002261158 | SCV002541241 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002294363 | SCV002587446 | uncertain significance | Kidney disorder | 2021-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422390 | SCV002722076 | likely benign | Inborn genetic diseases | 2019-10-25 | 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. |