ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.559G>A (p.Val187Met)

gnomAD frequency: 0.00016  dbSNP: rs199646884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729682 SCV001976717 likely pathogenic Finnish congenital nephrotic syndrome 2021-10-01 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3, PP5, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV000681696 SCV002458441 likely benign not provided 2023-03-02 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000681696 SCV000809145 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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