Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790721 | SCV000225105 | pathogenic | not provided | 2014-07-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000056007 | SCV000486667 | likely pathogenic | Maple syrup urine disease | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000056007 | SCV002033168 | pathogenic | Maple syrup urine disease | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000056007 | SCV000087067 | not provided | Maple syrup urine disease | no assertion provided | literature only |