Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000193473 | SCV000169872 | benign | not specified | 2014-03-13 | 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. |
Genetic Services Laboratory, |
RCV000193473 | SCV000249486 | benign | not specified | 2016-03-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000193473 | SCV000331029 | likely benign | not specified | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863217 | SCV001003840 | benign | Mowat-Wilson syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000863217 | SCV002045679 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |