ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) (rs138621371)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254472 SCV000318894 likely benign Cardiovascular phenotype 2019-06-27 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725965 SCV000340893 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000359658 SCV000513007 benign not specified 2016-02-10 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.
Invitae RCV001080597 SCV000557037 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-11-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770654 SCV000902112 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-27 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770654 SCV000913812 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725965 SCV001501060 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing

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