ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1947C>T (p.Gly649=)

dbSNP: rs2141317155
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423652 SCV001626233 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-05-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006956 SCV004836859 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing

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