ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)

gnomAD frequency: 0.00015  dbSNP: rs375141964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451952 SCV001655594 likely benign Congenital contractural arachnodactyly 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002396049 SCV002674098 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-03 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 RCV003490254 SCV004241201 benign not specified 2023-12-17 criteria provided, single submitter clinical testing

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