ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5850A>G (p.Thr1950=)

dbSNP: rs2043151355
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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 RCV001176854 SCV001340925 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558832 SCV003024064 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-02-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006333 SCV004814625 likely benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545103 SCV004797683 likely benign FBN1-related disorder 2023-09-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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