Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000082236 | SCV000114185 | benign | not specified | 2013-08-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082236 | SCV000247279 | benign | not specified | 2016-02-18 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000324253 | SCV000478965 | likely benign | Chromosome 9q deletion syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000324253 | SCV000636615 | benign | Chromosome 9q deletion syndrome | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000719126 | SCV000849990 | benign | History of neurodevelopmental disorder | 2016-05-05 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |