ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.114del (p.Ala39fs)

dbSNP: rs2505821967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University RCV003229551 SCV003926544 pathogenic Marfan syndrome 2021-12-28 no assertion criteria provided clinical testing

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