Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000274214 | SCV000458981 | likely benign | Capillary malformation-arteriovenous malformation 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000331764 | SCV000458982 | likely benign | Parkes Weber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521367 | SCV001730700 | benign | Capillary malformation-arteriovenous malformation syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446607 | SCV002737817 | likely benign | Cardiovascular phenotype | 2022-05-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |