ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.752T>G (p.Met251Arg)

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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 RCV004577610 SCV004218476 likely pathogenic Nephronophthisis 12 2023-12-01 criteria provided, single submitter clinical testing PM2_p,PM3_strong,PP3,PP4

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