Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000405817 | SCV000399270 | likely benign | Brittle cornea syndrome 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000487882 | SCV000530372 | benign | not provided | 2018-09-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000487882 | SCV000575063 | uncertain significance | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000487882 | SCV002429738 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278434 | SCV002565275 | benign | Ehlers-Danlos syndrome | 2020-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392871 | SCV002697519 | benign | Cardiovascular phenotype | 2019-03-20 | 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. |