ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2638G>T (p.Gly880Cys)

dbSNP: rs794728194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697010 SCV005197887 likely pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University RCV000984055 SCV000986977 likely pathogenic Marfan syndrome 2019-06-06 no assertion criteria provided clinical testing

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