ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1285+5G>T (rs370579582)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624233 SCV000741030 uncertain significance Inborn genetic diseases 2016-10-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996144 SCV001150665 likely pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004593 SCV001163738 pathogenic Wilson disease criteria provided, single submitter clinical testing

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