ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) (rs386833863)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000049832 SCV000924463 likely pathogenic Finnish congenital nephrotic syndrome 2018-06-15 no assertion criteria provided research The heterozygous p.Ser350Pro variant was identified by our study in the compound heterozygous state, along with a VUS, in one individual with nephrotic syndrome. This variant is likely pathogenic based on multiple reports in ClinVar and the literature.
Counsyl RCV000049832 SCV000220812 likely pathogenic Finnish congenital nephrotic syndrome 2014-10-16 criteria provided, single submitter literature only
Fulgent Genetics RCV000049832 SCV000894188 likely pathogenic Finnish congenital nephrotic syndrome 2018-10-31 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049832 SCV000082241 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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