ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.132G>A (p.Pro44=)

dbSNP: rs199702573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001436686 SCV001639530 likely benign Congenital contractural arachnodactyly 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384660 SCV002692906 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003331155 SCV004039182 likely benign not specified 2023-08-23 criteria provided, single submitter clinical testing

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