Submissions for variant NM_001999.4(FBN2):c.203C>T (p.Ala68Val)

gnomAD frequency: 0.03303  dbSNP: rs62390671

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079963	SCV000111854	benign	not specified	2013-09-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001719830	SCV000168470	benign	not provided	2021-02-12	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079963	SCV000269092	benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	Ala68Val in exon 1 of FBN2: This variant is not expected to have clinical signif icance because it has been identified in 4.7% (400/8582) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs62390671).
PreventionGenetics, part of Exact Sciences	RCV000079963	SCV000308594	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310653	SCV000317802	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-06-03	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000383512	SCV000452657	benign	Congenital contractural arachnodactyly	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000383512	SCV000563039	benign	Congenital contractural arachnodactyly	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719830	SCV000603682	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000383512	SCV000743987	benign	Congenital contractural arachnodactyly	2014-10-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277144	SCV002565885	benign	Ehlers-Danlos syndrome	2022-06-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277145	SCV002566556	benign	Connective tissue disorder	2022-04-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000079963	SCV003929269	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079963	SCV000151139	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000383512	SCV000745940	benign	Congenital contractural arachnodactyly	2014-02-04	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000079963	SCV001800322	benign	not specified		no assertion criteria provided	clinical testing