Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001692346 | SCV001159519 | benign | not provided | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664614 | SCV001876068 | benign | Capillary malformation-arteriovenous malformation 2 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664613 | SCV001876069 | benign | Lymphatic malformation 7 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692346 | SCV001914486 | benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001692346 | SCV002403060 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002391071 | SCV002696631 | benign | Cardiovascular phenotype | 2018-12-29 | 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. |
Breakthrough Genomics, |
RCV001692346 | SCV005268193 | benign | not provided | criteria provided, single submitter | not provided |