Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000234894 | SCV000268646 | likely pathogenic | Infantile GM1 gangliosidosis | 2016-05-11 | no assertion criteria provided | research | Variant c.75+5G>C (ENST00000307363) found to be pathogenic by online software Mutation Taster and Variant c.276G>A reported to cause disease (HGMD ID:CM115631). |