ClinVar Miner

Submissions for variant NM_022098.4(XPNPEP3):c.1194_1200del (p.Asp398fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV003224901 SCV003920904 likely pathogenic Nephronophthisis-like nephropathy 1 2023-05-02 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing.

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