ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) (rs200345491)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199393 SCV000250260 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Invitae RCV000471669 SCV000563036 likely benign Congenital contractural arachnodactyly 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621497 SCV000738980 likely benign Cardiovascular phenotype 2018-04-27 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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