ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2249-19A>G

gnomAD frequency: 0.00026  dbSNP: rs193091226
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242340 SCV000308596 likely benign not specified criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659601 SCV000781440 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000841391 SCV000983354 likely benign not provided 2018-04-04 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000242340 SCV001157327 likely benign not specified 2019-02-28 criteria provided, single submitter clinical testing
Invitae RCV002058094 SCV002434550 benign Congenital contractural arachnodactyly 2023-06-23 criteria provided, single submitter clinical testing

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