ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.891C>A (p.Gly297=) (rs539258943)

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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 RCV000252983 SCV000317672 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-11-20 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.
Invitae RCV000918948 SCV001064277 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing
Invitae RCV001480504 SCV001684823 likely benign Congenital contractural arachnodactyly 2018-03-22 criteria provided, single submitter clinical testing

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