Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000690750 | SCV000818452 | likely benign | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000690750 | SCV002786708 | uncertain significance | Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E | 2022-03-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004629298 | SCV005125005 | likely benign | Inborn genetic diseases | 2024-05-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000735727 | SCV000863880 | uncertain significance | Focal segmental glomerulosclerosis 5 | 2018-05-17 | no assertion criteria provided | clinical testing |