ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.515_517del (p.Thr172del) (rs386833947)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049922 SCV000221070 likely pathogenic Finnish congenital nephrotic syndrome 2015-01-22 criteria provided, single submitter literature only
Institute of Human Genetics,Klinikum rechts der Isar RCV000049922 SCV000680319 likely pathogenic Finnish congenital nephrotic syndrome 2017-12-07 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049922 SCV000082331 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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