Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145272 | SCV000192342 | uncertain significance | Wilson disease | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707533 | SCV000721497 | likely benign | not provided | 2019-12-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000145272 | SCV000752261 | likely benign | Wilson disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000145272 | SCV001977132 | likely benign | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321620 | SCV002607298 | likely benign | Inborn genetic diseases | 2022-02-20 | 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. |
Genome Diagnostics Laboratory, |
RCV001707533 | SCV002035210 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001707533 | SCV002037888 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000145272 | SCV002086817 | likely benign | Wilson disease | 2020-01-30 | no assertion criteria provided | clinical testing |