ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8520C>T (p.Asn2840=)

gnomAD frequency: 0.00006  dbSNP: rs139098335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841668 SCV000983648 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442781 SCV002681562 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-08-05 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 RCV002538317 SCV003260470 benign Congenital contractural arachnodactyly 2024-01-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000841668 SCV001807107 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000841668 SCV001968743 likely benign not provided no assertion criteria provided clinical testing

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