ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) (rs148598779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244952 SCV000320358 likely benign Cardiovascular phenotype 2020-08-11 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Fulgent Genetics,Fulgent Genetics RCV000765800 SCV000897190 uncertain significance Congenital contractural arachnodactyly; Macular degeneration, early-onset 2018-10-31 criteria provided, single submitter clinical testing

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