ClinVar Miner

Submissions for variant NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) (rs201788154)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715423 SCV000846252 uncertain significance History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000193760 SCV000526729 likely benign not specified 2017-01-20 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 RCV000193760 SCV000246683 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000640905 SCV000762509 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2017-11-02 criteria provided, single submitter clinical testing

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