ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7326T>G (p.Cys2442Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797227 SCV005418397 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome criteria provided, single submitter clinical testing PM2_Supporting+PP2+PP3+PP4+PS4_Supporting

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