Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000184101 | SCV000236650 | benign | not specified | 2014-10-22 | 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. |
Eurofins Ntd Llc |
RCV000725723 | SCV000338857 | uncertain significance | not provided | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085243 | SCV000555291 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426890 | SCV002729276 | likely benign | Cardiovascular phenotype | 2019-08-01 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150062 | SCV003838612 | likely benign | Cardiomyopathy | 2021-06-07 | criteria provided, single submitter | clinical testing |