ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.2394+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV003164437 SCV004218453 likely pathogenic Nephronophthisis 16 2023-12-01 criteria provided, single submitter clinical testing PVS1,PM2_p,PM3
Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine RCV003164437 SCV002581929 pathogenic Nephronophthisis 16 2022-10-08 no assertion criteria provided clinical testing

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