Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000203235 | SCV000257501 | pathogenic | Tay-Sachs disease | 2011-04-07 | criteria provided, single submitter | research | This variant was found to be pathogenic by MutationTaster, Polyphen2 and SIFT. |
Fulgent Genetics, |
RCV000203235 | SCV002795686 | likely pathogenic | Tay-Sachs disease | 2022-05-06 | criteria provided, single submitter | clinical testing |