Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001338866 | SCV001532569 | likely benign | Congenital contractural arachnodactyly | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001776205 | SCV002013316 | uncertain significance | not provided | 2021-11-01 | 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 does not alter 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 (Collod-Beroud et al., 2003; Frederic et al., 2009).; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 1035926; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 12938084, 18767143) |