ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) (rs769484789)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665788 SCV000789962 likely pathogenic Wilson disease 2017-03-01 criteria provided, single submitter clinical testing

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