ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3187G>A (p.Ala1063Thr)

dbSNP: rs2138948476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261955 SCV002541581 uncertain significance not provided 2021-07-13 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989760 SCV004806289 uncertain significance Wilson disease 2024-03-25 criteria provided, single submitter clinical testing

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