Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078042 | SCV000109880 | benign | not specified | 2012-12-17 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078042 | SCV000192326 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000078042 | SCV000301701 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001310698 | SCV000730410 | likely benign | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23235335, 11405812, 24878384, 18034201, 22308153, 27398169, 27022412, 27706781, 26650869, 26112727, 33763395) |
Invitae | RCV000631249 | SCV000752274 | likely benign | Wilson disease | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000631249 | SCV001272332 | uncertain significance | Wilson disease | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Genome- |
RCV000631249 | SCV001977162 | likely benign | Wilson disease | 2021-08-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000631249 | SCV003800584 | benign | Wilson disease | 2022-03-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162506 | SCV003911075 | likely benign | Inborn genetic diseases | 2022-12-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
All of Us Research Program, |
RCV000631249 | SCV004845541 | likely benign | Wilson disease | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000631249 | SCV001463835 | likely benign | Wilson disease | 2020-09-16 | no assertion criteria provided | clinical testing |