Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199574 | SCV000250306 | uncertain significance | not provided | 2019-10-02 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; 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).; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 213421; Landrum et al., 2016) |
Invitae | RCV000633581 | SCV000754827 | likely benign | Congenital contractural arachnodactyly | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000199574 | SCV003834034 | uncertain significance | not provided | 2021-03-26 | criteria provided, single submitter | clinical testing |