Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560109 | SCV000630215 | likely benign | Congenital contractural arachnodactyly | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001573843 | SCV003834024 | uncertain significance | not provided | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001573843 | SCV004039702 | uncertain significance | not provided | 2023-10-02 | 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); Although located in a calcium-binding EGF-like domain of the FBN2 gene, it does not substitute or introduce a cysteine residue (Callewaert et al., 2009; Frederic et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19006240, 18767143) |
Laboratory of Diagnostic Genome Analysis, |
RCV001573843 | SCV001800281 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001573843 | SCV001809116 | uncertain significance | not provided | no assertion criteria provided | clinical testing |