Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178352 | SCV000230418 | likely benign | not specified | 2014-07-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000178352 | SCV000513040 | likely benign | not specified | 2018-01-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000471527 | SCV000559438 | benign | Walker-Warburg congenital muscular dystrophy | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000178352 | SCV000613310 | benign | not specified | 2017-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000178352 | SCV002065974 | likely benign | not specified | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362913 | SCV002658064 | likely benign | Cardiovascular phenotype | 2019-01-31 | 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. |
Ce |
RCV003422072 | SCV004139819 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | FKRP: BP4, BP7, BS2 |
Prevention |
RCV003917660 | SCV004746046 | likely benign | FKRP-related condition | 2019-09-04 | 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). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000178352 | SCV004803633 | likely benign | not specified | 2024-01-22 | criteria provided, single submitter | clinical testing |