ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) (rs143565958)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621794 SCV000738946 likely benign Cardiovascular phenotype 2017-12-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000633653 SCV000754906 likely benign Congenital contractural arachnodactyly 2020-03-05 criteria provided, single submitter clinical testing
GeneDx RCV001569827 SCV001793983 likely benign not provided 2021-02-24 no assertion criteria provided clinical testing

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