Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441751 | SCV000533932 | likely benign | not specified | 2017-12-29 | 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 | RCV002060021 | SCV002406291 | benign | Adams-Oliver syndrome 5 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002060021 | SCV002554553 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270456 | SCV002554554 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000441751 | SCV004029514 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004017621 | SCV004849167 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2015-09-06 | criteria provided, single submitter | clinical testing | The c.2970-20G>A intronic alteration consists of a G to A substitution 20 nucleotides before coding exon 19 in the NOTCH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome Diagnostics Laboratory, |
RCV000441751 | SCV001808611 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724002 | SCV001954354 | likely benign | not provided | no assertion criteria provided | clinical testing |