ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8295T>A (p.Ala2765=)

gnomAD frequency: 0.00001  dbSNP: rs1417594908
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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 RCV001189612 SCV001356924 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501361 SCV001706169 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-12-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010373 SCV004844903 likely benign Marfan syndrome 2023-02-10 criteria provided, single submitter clinical testing

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