ClinVar Miner

Submissions for variant NM_000537.4(REN):c.47T>A (p.Leu16His)

dbSNP: rs121917743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000505648 SCV000599837 likely pathogenic Familial juvenile hyperuricemic nephropathy type 2 2017-04-20 no assertion criteria provided clinical testing

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