ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.383_384del (p.Thr128fs)

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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 RCV004577597 SCV004218452 pathogenic Focal segmental glomerulosclerosis 7 2023-12-01 criteria provided, single submitter clinical testing PVS1,PS2,PM2_p

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