Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000579389 | SCV000494622 | uncertain significance | Intellectual disability, autosomal recessive 42 | 2017-02-14 | no assertion criteria provided | clinical testing | The observed variant c.2286+5G>A (5' splice site) is not reported in 1000 genome and ExAc database. The insilico prediction of the variant is disease-causing by MutationTaster2. |