Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622438 | SCV000742545 | pathogenic | Inborn genetic diseases | 2017-05-24 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected |
Sick |
RCV000509055 | SCV000606801 | not provided | Rubinstein-Taybi syndrome 2 | no assertion provided | clinical testing |