Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757269 | SCV000885424 | likely benign | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | The FBN1 c.4488G>A; p.Thr1496Thr variant is not reported in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is reported in the dbSNP variant database (rs370494288) with an allele frequency of 0.0077 percent (1/12987 alleles) in the Exome Variant Server and in the Genome Aggregation Consortium with an allele frequency 0.004696 percent (13/276806 alleles). This is a silent variant, the nucleotide at the position is not well conserved across species, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant does not change splicing. Considering available information, this variant is classified as likely benign. |
Color Diagnostics, |
RCV001188500 | SCV001355571 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-01-27 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001188500 | SCV002041987 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-12-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002067192 | SCV002363045 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003117540 | SCV003800646 | likely benign | not specified | 2023-01-09 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003999894 | SCV004814723 | likely benign | Marfan syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |