ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.840_843del (p.Asn280fs)

dbSNP: rs1057518909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415067 SCV000492885 pathogenic Pectus excavatum; Inguinal hernia; Tall stature; Myopia; Joint hypermobility 2015-02-24 criteria provided, single submitter clinical testing

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