ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile)

dbSNP: rs1890163941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262892 SCV001440928 benign Cutis laxa, autosomal dominant 2 2019-01-01 criteria provided, single submitter clinical testing

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