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
Counsyl RCV000049832 SCV000220812 likely pathogenic Finnish congenital nephrotic syndrome 2014-10-16 criteria provided, single submitter literature only
Fulgent Genetics,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.
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.

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