Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000590019 | SCV000528455 | likely benign | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000428724 | SCV000694446 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000590019 | SCV000705072 | uncertain significance | not provided | 2017-01-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081467 | SCV000752275 | benign | Wilson disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001081467 | SCV001474565 | likely benign | Wilson disease | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001081467 | SCV001977556 | likely benign | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451013 | SCV002614986 | likely benign | Inborn genetic diseases | 2022-06-12 | 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. |
Color Diagnostics, |
RCV001081467 | SCV004361966 | likely benign | Wilson disease | 2022-08-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932647 | SCV004753909 | likely benign | ATP7B-related condition | 2021-08-25 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001081467 | SCV001454153 | likely benign | Wilson disease | 2020-04-15 | no assertion criteria provided | clinical testing |