ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5814C>T (p.Cys1938=)

gnomAD frequency: 0.00003  dbSNP: rs753556200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697524 SCV000717467 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Invitae RCV001055636 SCV001220036 benign Congenital contractural arachnodactyly 2023-07-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001697524 SCV003799219 likely benign not provided 2022-04-21 criteria provided, single submitter clinical testing

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