ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro)

dbSNP: rs780811477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668116 SCV000792667 uncertain significance Wilson disease 2017-07-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000668116 SCV002021993 likely pathogenic Wilson disease 2019-03-10 criteria provided, single submitter clinical testing

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