Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197133 | SCV000250233 | uncertain significance | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002310789 | SCV000319348 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-07-19 | criteria provided, single submitter | clinical testing | The c.6681A>G variant (also known as p.T2227T), located in coding exon 53, results from an A to G substitution at nucleotide position 6681 of the FBN2 gene. This nucleotide substitution does not change the amino acid at codon 2227. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to significantly strengthen an alternate splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002515359 | SCV003278828 | benign | Congenital contractural arachnodactyly | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230446 | SCV003929266 | likely benign | not specified | 2023-04-10 | criteria provided, single submitter | clinical testing |