ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) (rs115223340)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196293 SCV000250127 likely benign not specified 2017-08-22 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.
Ambry Genetics RCV000618140 SCV000738944 likely benign Cardiovascular phenotype 2016-06-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000757287 SCV000754883 benign Congenital contractural arachnodactyly 2020-09-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000196293 SCV000885446 likely benign not specified 2019-04-25 criteria provided, single submitter clinical testing

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