Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000082147 | SCV000114093 | benign | not specified | 2014-02-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082147 | SCV000194288 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082147 | SCV000314083 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000459753 | SCV000558217 | likely benign | Beckwith-Wiedemann syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000082147 | SCV000729333 | likely benign | not specified | 2017-01-19 | 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. |
Center for Human Genetics, |
RCV000660197 | SCV000782195 | likely benign | Sotos syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000717147 | SCV000847995 | likely benign | History of neurodevelopmental disorder | 2018-05-04 | criteria provided, single submitter | clinical testing | Subpopulation frequency in support of benign classification;In silico models in agreement (benign) |