ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.6211T>C (p.Ser2071Pro)

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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004785235 SCV005397878 uncertain significance Congenital contractural arachnodactyly; Macular degeneration, early-onset 2024-09-24 criteria provided, single submitter clinical testing

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