Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029354 | SCV000052001 | likely pathogenic | Wilson disease | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Genetic Services Laboratory, |
RCV000029354 | SCV000192318 | pathogenic | Wilson disease | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001508345 | SCV001714448 | pathogenic | not provided | 2020-11-12 | criteria provided, single submitter | clinical testing | PVS1_strong, PS4_moderate, PM2, PM3 |
Invitae | RCV000029354 | SCV002206158 | pathogenic | Wilson disease | 2021-09-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001508345 | SCV002574663 | likely pathogenic | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | Functional studies by RT-PCR analysis demonstrated the c.2122-8 T>G variant results in the prevalent production of a transcript with the in-frame deletion of exon 8 (Loudianos et al., 2002); Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 25525159, 18728530, 11076401, 12325021, 34400371, 20967755) |