Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169289 | SCV000220605 | likely pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2014-08-19 | criteria provided, single submitter | literature only | |
Fulgent Genetics, |
RCV000169289 | SCV000893369 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000169289 | SCV001163380 | pathogenic | Isovaleryl-CoA dehydrogenase deficiency | criteria provided, single submitter | clinical testing | ||
Ce |
RCV001090731 | SCV001246420 | pathogenic | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV001090731 | SCV001251800 | likely pathogenic | not provided | 2020-05-03 | criteria provided, single submitter | clinical testing |