ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) (rs146651049)

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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 RCV000718172 SCV000849034 likely benign History of neurodevelopmental disorder 2017-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725408 SCV000336753 uncertain significance not provided 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000298973 SCV000719203 likely benign not specified 2017-05-05 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.
Invitae RCV000555394 SCV000639991 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2017-04-05 criteria provided, single submitter clinical testing

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