Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725391 | SCV000336575 | uncertain significance | not provided | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000291190 | SCV000516971 | benign | not specified | 2015-09-22 | 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. |
Invitae | RCV001079869 | SCV000555293 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000291190 | SCV001821415 | likely benign | not specified | 2021-08-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429218 | SCV002744482 | likely benign | Cardiovascular phenotype | 2018-05-30 | 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, |
RCV003150149 | SCV003838605 | likely benign | Cardiomyopathy | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725391 | SCV004152386 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |