Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000830610 | SCV000972345 | likely benign | not provided | 2020-10-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079203 | SCV001004114 | likely benign | Alstrom syndrome | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415960 | SCV002680302 | likely benign | Cardiovascular phenotype | 2020-09-01 | 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. |
Fulgent Genetics, |
RCV001079203 | SCV002797833 | likely benign | Alstrom syndrome | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001079203 | SCV002078966 | likely benign | Alstrom syndrome | 2020-03-21 | no assertion criteria provided | clinical testing |