Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079027 | SCV000110896 | uncertain significance | not provided | 2013-11-14 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001543346 | SCV001547993 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | research | In vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); absent from gnomAD v2.1.1 (PM2_moderate); cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1_supporting); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting) |
Genome- |
RCV001543346 | SCV002044975 | uncertain significance | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001543346 | SCV001761898 | not provided | Mucopolysaccharidosis, MPS-IV-A | no assertion provided | literature only |