Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000416480 | SCV000494207 | likely pathogenic | Tay-Sachs disease | 2013-09-30 | no assertion criteria provided | research | Variant was found to be pathogenic by online software BDGP and ASST |