Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000508306 | SCV000603423 | likely benign | not specified | 2016-09-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001499211 | SCV001703970 | likely benign | Cutis laxa, autosomal recessive, type 1B | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002376940 | SCV002683406 | likely benign | Cardiovascular phenotype | 2019-06-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |