ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.4237_4249del (p.Asp1413fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV004577592 SCV004218445 pathogenic Nephronophthisis 4 2023-12-01 criteria provided, single submitter clinical testing PVS1,PM2_p,PM3

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