ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.1617G>A (p.Met539Ile)

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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 RCV004577598 SCV004218454 uncertain significance Nephronophthisis 16 2023-12-01 criteria provided, single submitter clinical testing PM2_p,PM3,PP3

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