Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000346525 | SCV000338371 | uncertain significance | not provided | 2015-12-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000186301 | SCV002790733 | uncertain significance | Primary hyperoxaluria, type I | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, |
RCV000186301 | SCV004171772 | pathogenic | Primary hyperoxaluria, type I | 2023-10-27 | criteria provided, single submitter | clinical testing | ACMG:PS3 PM2PM5 PP3 PP4 |
Clinical Biochemistry Laboratory, |
RCV000186301 | SCV000239634 | pathogenic | Primary hyperoxaluria, type I | 2014-11-27 | no assertion criteria provided | in vivo |