Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080781 | SCV000541345 | benign | Alstrom syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000493173 | SCV000581979 | likely benign | not provided | 2019-04-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001080781 | SCV001737283 | benign | Alstrom syndrome | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821220 | SCV002069396 | uncertain significance | not specified | 2018-07-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339109 | SCV002638753 | likely benign | Cardiovascular phenotype | 2019-03-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV001080781 | SCV002080519 | benign | Alstrom syndrome | 2019-11-11 | no assertion criteria provided | clinical testing |