ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4906dup (p.Ile1636fs)

dbSNP: rs1556463583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626982 SCV000747685 likely pathogenic Proteinuria; Hematuria 2017-01-01 criteria provided, single submitter clinical testing

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