Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001278769 | SCV002335271 | benign | Alstrom syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002447245 | SCV002681618 | likely benign | Cardiovascular phenotype | 2022-05-24 | 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, |
RCV001278769 | SCV001465801 | benign | Alstrom syndrome | 2020-06-08 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV001700730 | SCV001923147 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001700730 | SCV001971481 | likely benign | not provided | no assertion criteria provided | clinical testing |