ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1807C>T (p.Gln603Ter)

dbSNP: rs886038963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241933 SCV000319361 pathogenic Cardiovascular phenotype 2014-11-21 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596151 SCV005090991 likely pathogenic Marfan syndrome 2024-06-04 criteria provided, single submitter clinical testing PVS1, PM2 - The variant is expected to result in an absent or disrupted protein product. Not observed in large population cohorts (gnomAD).

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