ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) (rs151340633)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725792 SCV000339441 pathogenic not provided 2016-02-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000012560 SCV000246739 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000012560 SCV000032794 pathogenic Menkes kinky-hair syndrome 2009-01-01 no assertion criteria provided literature only

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