Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002482814 | SCV002790681 | pathogenic | Hyperglycinuria; Neutral 1 amino acid transport defect; Iminoglycinuria | 2022-02-19 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000002097 | SCV003804728 | pathogenic | Neutral 1 amino acid transport defect | 2023-01-26 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP |
OMIM | RCV000002097 | SCV000022255 | pathogenic | Neutral 1 amino acid transport defect | 2004-09-01 | no assertion criteria provided | literature only |