ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) (rs1064797072)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenePathDx,Causeway Health Care Private Ltd RCV000487452 SCV000574529 pathogenic Wilson disease 2017-03-01 criteria provided, single submitter clinical testing 18 years old male, a diagnosed case of Wilson disease. Next generation DNA sequencing of peripheral blood sample has revealed the presence of a homozygous pathogenic variant c.3236G>T in the ATP7B gene

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