Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438436 | SCV000513248 | benign | not specified | 2015-09-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000861653 | SCV001002030 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000016077 | SCV000036345 | pathogenic | Maturity-onset diabetes of the young, type 3 | 2002-10-01 | no assertion criteria provided | literature only |