Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193578 | SCV000247804 | likely benign | not specified | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000193578 | SCV000336193 | benign | not specified | 2015-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086162 | SCV001119623 | benign | L-2-hydroxyglutaric aciduria | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001086162 | SCV002799828 | likely benign | L-2-hydroxyglutaric aciduria | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000676580 | SCV004042588 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | L2HGDH: BP4, BP7, BS2 |
Mayo Clinic Laboratories, |
RCV000676580 | SCV000802367 | likely benign | not provided | 2016-02-26 | no assertion criteria provided | clinical testing |