Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000656700 | SCV000747829 | uncertain significance | Cornelia de Lange syndrome 1 | 2018-01-12 | no assertion criteria provided | clinical testing | The observed variant c.3856-?4239+?del is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the variant is disease causing by MutationTaster2. |