Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126158 | SCV000169651 | benign | not specified | 2013-12-16 | 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. |
Ambry Genetics | RCV000254515 | SCV000318502 | likely benign | Cardiovascular phenotype | 2013-03-05 | 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. |
Invitae | RCV001084296 | SCV000642882 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727398 | SCV000708220 | uncertain significance | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000126158 | SCV001880235 | benign | not specified | 2021-04-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727398 | SCV002496606 | likely benign | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing |