ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6880+17G>A (rs2042327)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125070 SCV000168510 benign not specified 2012-11-02 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.
PreventionGenetics,PreventionGenetics RCV000125070 SCV000308639 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586526 SCV000697899 benign not provided 2017-03-22 criteria provided, single submitter clinical testing Variant summary: The FBN2 c.6880+17G>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been observed in a large, broad control population, ExAC, in 62933/121394 control chromosomes at a frequency of 0.5184194, which is approximately 414735 times the estimated maximal expected allele frequency of a pathogenic FBN2 variant (0.0000013), strong evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories databases classified this variant as benign. Taken together, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611419 SCV000734375 benign Congenital contractural arachnodactyly no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000611419 SCV000745927 benign Congenital contractural arachnodactyly 2014-02-04 no assertion criteria provided clinical testing

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