Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697893 | SCV000723297 | likely benign | not provided | 2020-11-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23847139) |
Invitae | RCV000866862 | SCV001008017 | benign | Alstrom syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160106 | SCV003856802 | benign | Cardiovascular phenotype | 2023-01-27 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV001697893 | SCV004700761 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | ALMS1: BP4, BS2 |