Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000407275 | SCV000399287 | likely benign | Brittle cornea syndrome 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000487949 | SCV000530373 | benign | not provided | 2020-06-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24895405, 29228253) |
Ce |
RCV000487949 | SCV000575066 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | ZNF469: BS2 |
Invitae | RCV000487949 | SCV002322337 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000407275 | SCV002514255 | benign | Brittle cornea syndrome 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278438 | SCV002565294 | benign | Ehlers-Danlos syndrome | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418173 | SCV002718603 | benign | Cardiovascular phenotype | 2019-01-04 | 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. |