Submissions for variant NM_001999.4(FBN2):c.2555-7A>G

gnomAD frequency: 0.00137  dbSNP: rs28763949

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125038	SCV000168478	benign	not specified	2013-07-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000230269	SCV000287255	benign	Congenital contractural arachnodactyly	2024-01-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125038	SCV000308601	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230269	SCV000452625	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579403	SCV000603687	benign	not provided	2023-03-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000125038	SCV000705952	likely benign	not specified	2017-03-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000230269	SCV000743983	likely benign	Congenital contractural arachnodactyly	2017-10-12	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000230269	SCV000745432	likely benign	Congenital contractural arachnodactyly	2016-01-08	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659605	SCV000781444	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277249	SCV002565893	likely benign	Ehlers-Danlos syndrome	2022-06-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483246	SCV002795356	likely benign	Congenital contractural arachnodactyly; Macular degeneration, early-onset	2021-07-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000125038	SCV004029362	benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579403	SCV004698387	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FBN2: BP4, BS1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579403	SCV001807114	likely benign	not provided		no assertion criteria provided	clinical testing