Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000553001 | SCV000631806 | likely benign | Alstrom syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001534589 | SCV000732085 | likely benign | not provided | 2021-03-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000612301 | SCV000864118 | likely benign | not specified | 2024-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413480 | SCV002675720 | benign | Cardiovascular phenotype | 2019-02-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV001534589 | SCV004154995 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | ALMS1: BP4, BP7 |