ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4145A>T (p.Asn1382Ile)

dbSNP: rs1555397661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659539 SCV000781366 likely benign Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing

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