ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3060+16G>T (rs76163470)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029367 SCV000052014 likely benign Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174439 SCV000225745 benign not specified 2014-07-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174439 SCV000301713 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000174439 SCV000521898 benign not specified 2016-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000174439 SCV000602600 benign not specified 2016-12-04 criteria provided, single submitter clinical testing

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