Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172001 | SCV000050978 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Ambry Genetics | RCV000244350 | SCV000319141 | likely benign | Cardiovascular phenotype | 2013-11-20 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000276961 | SCV000341229 | likely benign | not specified | 2016-04-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000276961 | SCV000513495 | likely benign | not specified | 2017-08-25 | 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 | RCV001086138 | SCV000559831 | benign | Charcot-Marie-Tooth disease, type 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000276961 | SCV000595593 | likely benign | not specified | 2016-06-16 | criteria provided, single submitter | clinical testing | |
Color | RCV000771177 | SCV000903109 | benign | Cardiomyopathy | 2018-07-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172001 | SCV001147459 | likely benign | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771177 | SCV001333641 | benign | Cardiomyopathy | 2018-02-07 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172634 | SCV001335697 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |