Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000355985 | SCV000338440 | benign | not specified | 2016-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842225 | SCV000984225 | benign | not provided | 2018-06-06 | 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 | RCV001078596 | SCV001047838 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000355985 | SCV001879770 | benign | not specified | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000355985 | SCV002069862 | benign | not specified | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356383 | SCV002650740 | benign | Cardiovascular phenotype | 2022-08-04 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV000842225 | SCV002821854 | benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | FLNC: BS1, BS2 |
CHEO Genetics Diagnostic Laboratory, |
RCV003486805 | SCV004240661 | benign | Cardiomyopathy | 2023-06-23 | criteria provided, single submitter | clinical testing |