ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)

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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 RCV002366876 SCV002663266 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103312 SCV003515779 benign Congenital contractural arachnodactyly 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005232964 SCV005877868 likely benign not provided 2024-03-20 criteria provided, single submitter clinical testing

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