ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) (rs113577372)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125014 SCV000168454 benign not specified 2013-04-25 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000125014 SCV000344528 benign not specified 2016-09-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000125014 SCV000603638 benign not specified 2019-02-28 criteria provided, single submitter clinical testing
Invitae RCV000755532 SCV000753136 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-11-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769631 SCV000901031 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769631 SCV001357604 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029759 SCV000052412 benign Marfan syndrome 2015-03-30 no assertion criteria provided clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000029759 SCV000787205 likely benign Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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