Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725724 | SCV000338871 | uncertain significance | not provided | 2017-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081031 | SCV000559443 | likely benign | Walker-Warburg congenital muscular dystrophy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725724 | SCV000722781 | likely benign | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725724 | SCV001475119 | likely benign | not provided | 2020-08-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379132 | SCV002694275 | likely benign | Cardiovascular phenotype | 2019-05-19 | 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. |
Revvity Omics, |
RCV000725724 | SCV003832660 | likely benign | not provided | 2023-08-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330622 | SCV004038559 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |