ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464958 SCV004216471 likely pathogenic Wilson disease 2023-02-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003464958 SCV005430783 likely pathogenic Wilson disease 2024-06-11 criteria provided, single submitter clinical testing

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