ClinVar Miner

Submissions for variant NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter)

dbSNP: rs2139960687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507851 SCV001713670 likely pathogenic not provided 2019-10-14 criteria provided, single submitter clinical testing PVS1, PM2
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447324 SCV004174389 uncertain significance Cutis laxa, autosomal dominant 2019-10-03 no assertion criteria provided literature only

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