ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7728C>G (p.Arg2576=)

dbSNP: rs751226629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002958506 SCV003277930 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV005403256 SCV006063254 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-11-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536479 SCV004753794 likely benign FBN1-related disorder 2019-05-31 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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