ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2433C>T (p.Cys811=)

gnomAD frequency: 0.00001  dbSNP: rs193921256
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029710 SCV000052363 likely benign Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
CeGaT Center for Human Genetics Tuebingen RCV001200100 SCV001370972 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001446154 SCV001649197 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528137 SCV004357440 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000029710 SCV004814902 likely benign Marfan syndrome 2023-02-22 criteria provided, single submitter clinical testing

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