Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001578602 | SCV001547897 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | Nonsense variant (PVS1_very strong); in vitro functional studies supportive of a damaging effect on the gene product (RNA studies; PS3_supporting); absent from gnomAD v2.1.1 (PM2_moderate) |
Fulgent Genetics, |
RCV001578602 | SCV005641467 | pathogenic | Mucopolysaccharidosis, MPS-IV-A | 2024-06-03 | criteria provided, single submitter | clinical testing |