ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3890_3891insCAC (p.Arg1298_Val1299insThr) (rs1567202189)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Urology,The First Affiliated Hospital of Henan University of Traditional Chinese Medicine RCV000760293 SCV000839539 likely pathogenic Polycystic kidney dysplasia; Renal insufficiency 2018-02-26 criteria provided, single submitter clinical testing A novel non-frameshift insertion identified from a Chinese Han family with ADPKD. Four members of this family were affected by this variant, two of whom showed typical symptoms of PKD, including multiple cysts in both kidneys and liver, mild renal insufficiency.

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