ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)

dbSNP: rs2060340440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089912 SCV001245145 likely pathogenic Autosomal dominant Alport syndrome; Benign familial hematuria 2020-03-11 criteria provided, single submitter clinical testing

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