ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5353+19C>T (rs183524866)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125060 SCV000168500 benign not specified 2014-03-01 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 RCV000125060 SCV000308622 likely benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625169 SCV000743980 benign Congenital contractural arachnodactyly 2017-02-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659625 SCV000781465 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286541 SCV001473135 benign none provided 2020-07-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625169 SCV000745932 benign Congenital contractural arachnodactyly 2015-01-27 no assertion criteria provided clinical testing

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