Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics Research Group, |
RCV000195291 | SCV000223813 | pathogenic | Au-Kline syndrome | 2018-01-07 | criteria provided, single submitter | research | |
Baylor- |
RCV000195291 | SCV000266551 | pathogenic | Au-Kline syndrome | criteria provided, single submitter | research | ||
Fulgent Genetics, |
RCV000195291 | SCV000894480 | likely pathogenic | Au-Kline syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000195291 | SCV000249598 | pathogenic | Au-Kline syndrome | 2015-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000195291 | SCV000899162 | not provided | Au-Kline syndrome | no assertion provided | literature only | This variant is predicted to result in a missense variant (p.Arg86His) but has been shown to cause a splicing defect and decreased protein production. |