ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.258C>T (p.Pro86=)

gnomAD frequency: 0.00001  dbSNP: rs780509984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873910 SCV001016003 likely benign Congenital contractural arachnodactyly 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380767 SCV004091698 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-08-30 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.

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