Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556628 | SCV000630218 | likely benign | Congenital contractural arachnodactyly | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003105946 | SCV003762022 | uncertain significance | not provided | 2022-12-30 | criteria provided, single submitter | clinical testing | 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; 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31506931, 19006240, 18767143) |