ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2428+9T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287350 SCV001474025 likely benign none provided 2020-02-28 criteria provided, single submitter clinical testing
Invitae RCV001398748 SCV001600523 likely benign Congenital contractural arachnodactyly 2019-11-11 criteria provided, single submitter clinical testing

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