ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3246C>T (p.Gly1082=)

gnomAD frequency: 0.00004  dbSNP: rs138855754
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450107 SCV001653704 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-06-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000863372 SCV001747122 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528239 SCV004357412 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-08-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002929 SCV004814819 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003528239 SCV005032583 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-01 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.

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