ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1672-27del

dbSNP: rs202100183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001691552 SCV001913347 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838798 SCV002098463 benign Cholestasis, progressive familial intrahepatic, 4 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838797 SCV002098464 benign Hypercholanemia, familial 1 2021-09-10 criteria provided, single submitter clinical testing

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