ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.*323dup

dbSNP: rs536242166
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350859 SCV000452519 uncertain significance Congenital contractural arachnodactyly 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618628 SCV001842885 benign not provided 2019-08-18 criteria provided, single submitter clinical testing

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