Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000329325 | SCV000340048 | pathogenic | not provided | 2016-03-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001729508 | SCV001977276 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001729508 | SCV002198503 | pathogenic | Wilson disease | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1038Glnfs*31) in the ATP7B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP7B are known to be pathogenic (PMID: 10441329, 16283883). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ATP7B-related conditions. ClinVar contains an entry for this variant (Variation ID: 286564). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001729508 | SCV004210675 | pathogenic | Wilson disease | 2022-05-24 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000329325 | SCV004226659 | likely pathogenic | not provided | 2023-02-09 | criteria provided, single submitter | clinical testing | PM2, PVS1 |