ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5007C>T (p.Asn1669=)

gnomAD frequency: 0.00001  dbSNP: rs1267512714
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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 RCV001177239 SCV001341414 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769901 SCV004569014 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-12-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006375 SCV004814680 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing

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