ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) (rs146692150)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000721073 SCV000851958 likely benign History of neurodevelopmental disorder 2013-05-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724715 SCV000232904 uncertain significance not provided 2015-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000193566 SCV000721950 likely benign not specified 2017-08-17 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.
Genetic Services Laboratory, University of Chicago RCV000193566 SCV000246666 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000528671 SCV000639969 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2017-08-24 criteria provided, single submitter clinical testing

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