ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6569G>T (p.Cys2190Phe)

dbSNP: rs1566895262
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761275 SCV000891234 likely pathogenic Marfan syndrome 2017-08-15 criteria provided, single submitter clinical testing

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