ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)

dbSNP: rs1597523873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788855 SCV000928123 likely pathogenic not provided 2018-12-17 criteria provided, single submitter clinical testing
Mendelics RCV000989313 SCV001139592 likely pathogenic Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing

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