Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124089 | SCV000167498 | benign | not specified | 2015-03-14 | 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 | RCV000254153 | SCV000319979 | benign | Cardiovascular phenotype | 2015-08-07 | 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 | RCV000466096 | SCV000562869 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000718643 | SCV000849507 | benign | History of neurodevelopmental disorder | 2015-08-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811996 | SCV002049413 | benign | not provided | 2020-10-04 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124089 | SCV002766095 | benign | not specified | 2022-11-28 | criteria provided, single submitter | clinical testing |