ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2232G>C (p.Gly744=)

gnomAD frequency: 0.00009  dbSNP: rs762745991
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000939449 SCV000535896 likely benign not provided 2018-10-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184486 SCV001350465 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001501015 SCV001705819 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184486 SCV002727890 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-29 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 RCV004000584 SCV004814906 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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