ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter)

dbSNP: rs869312746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000210047 SCV001522230 pathogenic Nephrotic syndrome, type 2 2019-11-15 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000210047 SCV004807939 uncertain significance Nephrotic syndrome, type 2 2024-03-29 criteria provided, single submitter clinical testing
Human Genetics Disease in Children – Taif University, Taif University RCV000210047 SCV000265972 pathogenic Nephrotic syndrome, type 2 2016-01-01 no assertion criteria provided clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000210047 SCV001192766 pathogenic Nephrotic syndrome, type 2 2019-08-07 no assertion criteria provided clinical testing

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