ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.2515del (p.Gln839fs) (rs386833918)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049892 SCV000795949 pathogenic Finnish congenital nephrotic syndrome 2017-11-29 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049892 SCV000082301 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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