ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5430T>C (p.Asp1810=)

gnomAD frequency: 0.00023  dbSNP: rs750681115
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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 RCV002116077 SCV002404116 benign Congenital contractural arachnodactyly 2023-10-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277023 SCV002565931 likely benign Ehlers-Danlos syndrome 2022-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346446 SCV002652229 benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV004572054 SCV005050757 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing FBN2: BP4, BP7, BS1

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