ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4095C>T (p.Asp1365=) (rs375402043)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513577 SCV000608720 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620809 SCV000738891 likely benign Cardiovascular phenotype 2017-08-15 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000632049 SCV000753152 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2017-10-11 criteria provided, single submitter clinical testing
Color Health, Inc RCV000772180 SCV000905297 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192950 SCV001361429 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing

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