Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652912 | SCV000774784 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001592828 | SCV001825378 | uncertain significance | not provided | 2020-05-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 542484; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31273343) |