Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719064 | SCV000728361 | likely benign | not provided | 2019-12-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000669648 | SCV000794424 | likely benign | Alstrom syndrome | 2017-09-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000669648 | SCV002374551 | likely benign | Alstrom syndrome | 2023-07-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000669648 | SCV002809488 | likely benign | Alstrom syndrome | 2021-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162747 | SCV003857289 | likely benign | Cardiovascular phenotype | 2023-01-16 | 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. |