ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn)

dbSNP: rs1597553721
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845335 SCV000987381 likely pathogenic Marfan syndrome criteria provided, single submitter clinical testing

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