ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8196C>T (p.His2732=)

gnomAD frequency: 0.00001  dbSNP: rs780426123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311074 SCV000319828 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-06-23 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.
GeneDx RCV000614622 SCV000716202 likely benign not specified 2017-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV003525892 SCV004263987 likely benign Congenital contractural arachnodactyly 2023-01-14 criteria provided, single submitter clinical testing

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