ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.621G>A (p.Thr207=)

dbSNP: rs765173237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186702 SCV001353256 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797823 SCV002041891 likely benign not specified 2021-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560890 SCV003472752 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-02-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008624 SCV004823121 likely benign Marfan syndrome 2023-05-23 criteria provided, single submitter clinical testing

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