Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000202576 | SCV000257503 | pathogenic | Tay-Sachs disease | 2011-10-02 | criteria provided, single submitter | research | This variant found to be pathogenic by online software, including MutationTaster, Polyphen2 and SIFT. |