ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1286-2A>G

dbSNP: rs2139975409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inborn Errors of Metabolism Laboratory, Hospices Civils de Lyon RCV001506996 SCV001711919 pathogenic Wilson disease 2021-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001506996 SCV001977378 pathogenic Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV001506996 SCV005053098 pathogenic Wilson disease 2023-12-13 criteria provided, single submitter clinical testing

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