ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) (rs386833920)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049894 SCV000486707 likely pathogenic Finnish congenital nephrotic syndrome 2016-07-22 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049894 SCV000082303 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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