ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8004C>T (p.Gly2668=)

gnomAD frequency: 0.00004  dbSNP: rs371285755
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720165 SCV000522947 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191144 SCV001358848 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001395258 SCV001596962 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001191144 SCV002042017 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001191144 SCV002679971 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004000382 SCV004844931 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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