Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247566 | SCV001420995 | likely benign | Congenital contractural arachnodactyly | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002290660 | SCV002578777 | uncertain significance | not provided | 2022-04-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Frdric et al., 2009); This variant is associated with the following publications: (PMID: 18767143) |