ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.3407+3A>G

gnomAD frequency: 0.00007  dbSNP: rs727505291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156821 SCV000206542 likely benign not specified 2014-10-17 criteria provided, single submitter clinical testing c.2897+3A>G in intron 21 of TJP2: This variant is not expected to have clinical significance because it does not cause the splice site sequence to diverge from consensus and computational tools do not suggest an impact on splicing.
Fulgent Genetics, Fulgent Genetics RCV002498771 SCV002811283 likely benign Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 2021-09-02 criteria provided, single submitter clinical testing

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