ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5675-9del (rs112666443)

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Total submissions: 6
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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, Partners HealthCare 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,PreventionGenetics RCV000195992 SCV000308626 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000195992 SCV000332647 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317758 SCV000452576 benign Congenital contractural arachnodactyly 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000317758 SCV000563025 benign Congenital contractural arachnodactyly 2020-12-07 criteria provided, single submitter clinical testing

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