ClinVar Miner

Submissions for variant NM_004817.4(TJP2):c.1714G>A (p.Val572Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760302 SCV005374487 uncertain significance Hypercholanemia, familial 1 2024-09-22 criteria provided, single submitter clinical testing

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