Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000836330 | SCV000978174 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001421004 | SCV001623467 | benign | Maturity-onset diabetes of the young type 3 | 2021-05-18 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000119856 | SCV000083906 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |