ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.5198_5201del (p.Ser1733fs)

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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 RCV004795526 SCV005416035 likely pathogenic Dermatitis, atopic, 2; Ichthyosis vulgaris criteria provided, single submitter clinical testing PVS1_Strong+PM2_Supporting+PP4

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