ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu)

dbSNP: rs1057518867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415306 SCV000492783 likely pathogenic Hand tremor; Kayser-Fleischer ring 2015-09-30 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198322 SCV001369211 likely pathogenic Wilson disease 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.

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