Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000225555 | SCV000282513 | likely pathogenic | Neuronal ceroid lipofuscinosis 1 | 2015-11-27 | no assertion criteria provided | research | Variant c.713C>T/p.P238L (ENST00000433473) found to be pathogenic by online software Mutation Taster, SIFT and Polyphen2 |