ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7407A>G (p.Ser2469=)

dbSNP: rs193922232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029776 SCV000052430 likely benign Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000945095 SCV001091082 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381267 SCV002671242 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-20 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 RCV000029776 SCV004827080 likely benign Marfan syndrome 2023-06-26 criteria provided, single submitter clinical testing

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