ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.829G>A (p.Val277Ile) (rs146849637)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514077 SCV000603679 benign not provided 2017-06-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252317 SCV000317371 likely benign Cardiovascular phenotype 2017-06-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514077 SCV000610895 likely benign not provided 2017-06-13 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583514 SCV000692231 uncertain significance Loeys-Dietz syndrome 2017-03-30 no assertion criteria provided clinical testing
GeneDx RCV000195579 SCV000250141 likely benign not specified 2017-09-06 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.
Genetic Services Laboratory, University of Chicago RCV000195579 SCV000594756 likely benign not specified 2016-04-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204651 SCV000452646 likely benign Congenital contractural arachnodactyly 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204651 SCV000261991 likely benign Congenital contractural arachnodactyly 2017-12-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000195579 SCV000308658 likely benign not specified criteria provided, single submitter clinical testing

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