ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5675-9del

gnomAD frequency: 0.05000  dbSNP: rs112666443
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195992 SCV000250118 benign not specified 2015-03-03 criteria provided, single submitter clinical testing This variant was found in TAADV2-PANCARD,TAAD,TAADV2-1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000195992 SCV000269099 benign not specified 2015-07-16 criteria provided, single submitter clinical testing c.5675-9delC in intron 44 of FBN2: This variant is not expected to have clinical significance because it has been identified in 23% (1548/6764) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs112666443).
PreventionGenetics, part of Exact Sciences RCV000195992 SCV000308626 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000195992 SCV000332647 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317758 SCV000452576 benign Congenital contractural arachnodactyly 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000317758 SCV000563025 benign Congenital contractural arachnodactyly 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000195992 SCV003929268 benign not specified 2023-04-10 criteria provided, single submitter clinical testing

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