ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro)

gnomAD frequency: 0.00001  dbSNP: rs1563950539
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729812 SCV000857503 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
Rolfs Rare Disease Consulting, Rolfs Consulting Und Verwaltungs GmbH RCV003492157 SCV004232504 pathogenic Cholestasis, progressive familial intrahepatic, 4 2020-01-01 criteria provided, single submitter clinical testing

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