ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2142G>A (p.Gly714=)

gnomAD frequency: 0.00003  dbSNP: rs1423523072
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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 RCV000774214 SCV000907915 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861686 SCV001002068 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001366 SCV004814916 likely benign Marfan syndrome 2023-10-27 criteria provided, single submitter clinical testing

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