ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) (rs565227443)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf RCV000766257 SCV000897675 likely pathogenic Congenital contractural arachnodactyly 2018-11-20 criteria provided, single submitter research Co-segregation with disease in 4 affected family members; Differential diagnosis for this patient is CCA

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