Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001272957 | SCV001709057 | likely benign | Alstrom syndrome | 2021-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336986 | SCV002640651 | likely benign | Cardiovascular phenotype | 2020-03-17 | 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, |
RCV001272957 | SCV002800544 | likely benign | Alstrom syndrome | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272957 | SCV001455453 | uncertain significance | Alstrom syndrome | 2020-02-13 | no assertion criteria provided | clinical testing |