Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001437999 | SCV001640865 | likely benign | Alstrom syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002319714 | SCV002608631 | likely benign | Cardiovascular phenotype | 2019-10-01 | 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. |
Genome Diagnostics Laboratory, |
RCV001796495 | SCV002034063 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001796496 | SCV002034726 | benign | not specified | no assertion criteria provided | clinical testing |