ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2122-8T>G (rs193922102)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029354 SCV000052001 likely pathogenic Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Genetic Services Laboratory,University of Chicago RCV000029354 SCV000192318 pathogenic Wilson disease 2013-02-08 criteria provided, single submitter clinical testing

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