Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029384 | SCV000052032 | pathogenic | Wilson disease | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Pathogenic. |
Invitae | RCV000029384 | SCV000752255 | pathogenic | Wilson disease | 2023-11-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu282Profs*2) 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 (rs193922111, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Wilson disease (PMID: 9311736, 9482578, 11216666, 11243728, 15523622, 18371106, 22308153). ClinVar contains an entry for this variant (Variation ID: 35735). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000029384 | SCV001977394 | pathogenic | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000029384 | SCV002776702 | pathogenic | Wilson disease | 2021-12-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000029384 | SCV004216317 | pathogenic | Wilson disease | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000029384 | SCV001453796 | pathogenic | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |