ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1234G>T (p.Gly412Cys)

dbSNP: rs142008044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049845 SCV000793326 likely pathogenic Finnish congenital nephrotic syndrome 2017-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000049845 SCV004191515 pathogenic Finnish congenital nephrotic syndrome 2024-03-12 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049845 SCV000082254 probable-pathogenic Finnish congenital nephrotic syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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