Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172753 | SCV000051553 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000172753 | SCV000170054 | benign | not specified | 2013-11-22 | 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. |
Ambry Genetics | RCV000619906 | SCV000734986 | benign | Cardiovascular phenotype | 2015-03-11 | 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. |
Invitae | RCV002055656 | SCV002371656 | benign | Dilated cardiomyopathy 1JJ | 2022-05-31 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000172753 | SCV001743579 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000172753 | SCV001918290 | benign | not specified | no assertion criteria provided | clinical testing |