ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.634A>C (p.Thr212Pro)

dbSNP: rs1597593736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University RCV000984040 SCV000986962 likely pathogenic Marfan syndrome 2019-06-06 no assertion criteria provided clinical testing

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