Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001476431 | SCV001680639 | likely benign | Wolman disease | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436989 | SCV002747079 | likely benign | Cardiovascular phenotype | 2019-12-19 | 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. |
Natera, |
RCV001277799 | SCV001464768 | uncertain significance | Lysosomal acid lipase deficiency | 2020-04-11 | no assertion criteria provided | clinical testing |