Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055592 | SCV001219992 | benign | Congenital contractural arachnodactyly | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759802 | SCV001986096 | uncertain significance | not provided | 2019-05-06 | criteria provided, single submitter | clinical testing | Reported in patient with severe adolescent idiopathic scoliosis (Buchan et al., 2014); Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Collod-Beroud et al., 2003; Frederic et al., 2009); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24833718) |