ClinVar Miner

Submissions for variant NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795762 SCV005417974 pathogenic Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1 criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4+PM3_Supporting

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