Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000804321 | SCV000944225 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2025-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759536 | SCV002005041 | uncertain significance | not provided | 2024-09-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |