Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668277 | SCV000792850 | likely benign | Alstrom syndrome | 2017-07-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175436 | SCV001338987 | likely benign | not specified | 2020-03-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668277 | SCV001640874 | likely benign | Alstrom syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592850 | SCV001826748 | likely benign | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422453 | SCV002722917 | likely benign | Cardiovascular phenotype | 2019-11-11 | 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. |