ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.954T>A (p.Gly318=)

gnomAD frequency: 0.00001  dbSNP: rs753055657
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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 RCV001188501 SCV001355572 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001188501 SCV002042022 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560927 SCV003513484 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-14 criteria provided, single submitter clinical testing

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