ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1040G>A (p.Gly347Glu)

dbSNP: rs386833862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441734 SCV004168094 uncertain significance not provided 2023-04-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20172850, 36898413, 29474669)
Baylor Genetics RCV000049831 SCV004191443 likely pathogenic Finnish congenital nephrotic syndrome 2023-06-24 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049831 SCV000082240 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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