Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030080 | SCV000052735 | likely benign | Maturity-onset diabetes of the young type 4 | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely benign. |
Eurofins Ntd Llc |
RCV000332874 | SCV000333765 | uncertain significance | not provided | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000332874 | SCV001032749 | benign | not provided | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001289059 | SCV001476617 | benign | not specified | 2019-09-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000332874 | SCV001785891 | likely benign | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345257 | SCV002648039 | benign | Maturity onset diabetes mellitus in young | 2016-10-27 | 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. |