Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412086 | SCV000485748 | likely pathogenic | Wilson disease | 2016-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000412086 | SCV001391820 | pathogenic | Wilson disease | 2020-07-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1177*) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 370427). Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001531799 | SCV001747085 | pathogenic | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000412086 | SCV001977250 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000412086 | SCV004216370 | likely pathogenic | Wilson disease | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001531799 | SCV004226648 | likely pathogenic | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | PM2, PVS1 |