ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2992-19G>A

gnomAD frequency: 0.39706  dbSNP: rs2282335
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000253272 SCV000310685 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001610652 SCV001839546 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838581 SCV002098472 benign Cholestasis, progressive familial intrahepatic, 4 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838580 SCV002098473 benign Hypercholanemia, familial 1 2021-09-10 criteria provided, single submitter clinical testing
Invitae RCV001610652 SCV002403010 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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