Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085801 | SCV001015747 | benign | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000675679 | SCV001371678 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | GLB1: BS1 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001805797 | SCV002050883 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675679 | SCV000801387 | likely benign | not provided | 2017-08-09 | no assertion criteria provided | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252005 | SCV001427751 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |