Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001464424 | SCV001159998 | likely benign | not provided | 2023-11-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001464424 | SCV001668393 | likely benign | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001464424 | SCV002756858 | uncertain significance | not provided | 2022-05-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34662886) |
Mayo Clinic Laboratories, |
RCV001464424 | SCV004227657 | uncertain significance | not provided | 2023-06-07 | criteria provided, single submitter | clinical testing | BP4 |
Center for Genomic Medicine, |
RCV001002143 | SCV004242753 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |