Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037542 | SCV000061200 | benign | not specified | 2012-05-31 | criteria provided, single submitter | clinical testing | 8.7% (324/3738) of Afr Amer chrom in ESP. |
Ambry Genetics | RCV000250459 | SCV000318212 | benign | Cardiovascular phenotype | 2015-08-04 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV000037542 | SCV000515389 | benign | not specified | 2016-10-25 | 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 | RCV000458592 | SCV000557876 | benign | Hypertrophic cardiomyopathy 14 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769429 | SCV000900822 | benign | Cardiomyopathy | 2016-04-06 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000037542 | SCV001918114 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037542 | SCV001952981 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000037542 | SCV001974520 | benign | not specified | no assertion criteria provided | clinical testing |