ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1928T>C (p.Leu643Pro) (rs386833898)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049869 SCV000082278 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003824 SCV001162275 pathogenic Congenital nephrotic syndrome no assertion criteria provided research

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