ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.756C>T (p.Ala252=)

gnomAD frequency: 0.00001  dbSNP: rs1398534692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177650 SCV001341899 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769910 SCV004586241 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-02-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006396 SCV004823112 likely benign Marfan syndrome 2023-09-04 criteria provided, single submitter clinical testing

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