ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) (rs770803581)

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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 RCV000623906 SCV000742283 uncertain significance Inborn genetic diseases 2017-04-10 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV001029949 SCV001192746 uncertain significance Congenital contractural arachnodactyly 2019-06-25 no assertion criteria provided clinical testing

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