ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6054C>T (p.Val2018=) (rs542953863)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443368 SCV000530795 likely benign not specified 2016-08-08 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 RCV000528819 SCV000627954 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-11-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769632 SCV000901032 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-10-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV000769632 SCV001349217 benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-08 criteria provided, single submitter clinical testing

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