ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3082+8del (rs193922196)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035161 SCV000058802 likely benign not specified 2011-04-22 criteria provided, single submitter clinical testing 3082+8delG in intron 24 of FBN1: This variant has not been previously reported, but is not expected to be of clinical significance because it is not located in the conserved region of the splicing consensus sequence.
GeneDx RCV000181401 SCV000233703 benign Familial thoracic aortic aneurysm and aortic dissection 2014-08-18 criteria provided, single submitter clinical testing The variant is found in TAAD panel(s).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035161 SCV000336718 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV000467956 SCV000557033 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-12-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035161 SCV000603635 benign not specified 2018-08-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029722 SCV000052375 benign Marfan syndrome 2014-07-17 no assertion criteria provided clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000029722 SCV000786920 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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