Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000080341 | SCV000112236 | benign | not specified | 2013-10-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000080341 | SCV000248387 | benign | not specified | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000206456 | SCV000260360 | benign | Joubert syndrome; Oral-facial-digital syndrome | 2017-11-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000080341 | SCV000309726 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000718907 | SCV000849771 | benign | History of neurodevelopmental disorder | 2017-02-07 | 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 |
Gene |
RCV000033987 | SCV000057917 | non-pathogenic | Oral-facial-digital syndrome | 2013-02-28 | no assertion criteria provided | curation | Converted during submission to Benign. |