ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)

gnomAD frequency: 0.00001  dbSNP: rs941219425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001497115 SCV001701833 likely benign Congenital contractural arachnodactyly 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456891 SCV002617432 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-12-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001729925 SCV001977661 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729925 SCV001978064 likely benign not provided no assertion criteria provided clinical testing

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