Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000243288 | SCV000304606 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001516114 | SCV001547871 | benign | Mucopolysaccharidosis, MPS-IV-A | 2021-02-01 | criteria provided, single submitter | curation | Allele frequency is >5% in gnomAD v2.1.1 (BA1_stand-alone); allele frequency is greater than expected for disorder (BS1_strong); |
Invitae | RCV001516114 | SCV001724340 | benign | Mucopolysaccharidosis, MPS-IV-A | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668439 | SCV001888548 | benign | not provided | 2019-06-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 9375852) |
Genome- |
RCV001516114 | SCV002045053 | benign | Mucopolysaccharidosis, MPS-IV-A | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001516114 | SCV002807734 | benign | Mucopolysaccharidosis, MPS-IV-A | 2021-12-04 | criteria provided, single submitter | clinical testing |