ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) (rs751202110)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001001455 SCV001079183 likely benign Wilson disease 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001455 SCV001158703 likely benign Wilson disease 2018-08-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172064 SCV001334999 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing

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