ClinVar Miner

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

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Total submissions: 1
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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.

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