Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000415720 | SCV000282086 | likely pathogenic | Intellectual disability, autosomal recessive 27 | 2016-02-29 | no assertion criteria provided | research | Variant c.937G>A was found to be pathogenic by various online software like SIFT, Mutation Taster, Polyphen. |