ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1240A>G (p.Thr414Ala)

dbSNP: rs1973174583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001195708 SCV001366112 uncertain significance Nephrotic syndrome 2019-09-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142123 SCV003816068 uncertain significance Finnish congenital nephrotic syndrome 2020-02-10 criteria provided, single submitter clinical testing

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