ClinVar Miner

Submissions for variant NM_000053.3(ATP7B):c.[1924G>C];[3809A>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biologia e Medicina Molecolare, Sapienza University of Rome RCV000504595 SCV000598621 pathogenic Wilson disease 2017-08-30 criteria provided, single submitter research Multiple affected and carrier patients in one pedigree with mentioned mutations which confirmed by segregation analysis and patients have hepatic and neurologic manifestations.

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