Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202905 | SCV000258193 | benign | not specified | 2015-02-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640305 | SCV001855903 | benign | not provided | 2020-01-05 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV001731435 | SCV001984553 | likely benign | Alagille syndrome due to a NOTCH2 point mutation | 2020-07-19 | criteria provided, single submitter | clinical testing |