Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000970742 | SCV001118337 | likely benign | Niemann-Pick disease, type B; Niemann-Pick disease, type A | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427405 | SCV002740576 | likely benign | Inborn genetic diseases | 2022-03-25 | 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. |
Natera, |
RCV001276410 | SCV001462673 | uncertain significance | Sphingomyelin/cholesterol lipidosis | 2017-05-04 | no assertion criteria provided | clinical testing |