ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724715 SCV000232904 uncertain significance not provided 2015-04-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193566 SCV000246666 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001086885 SCV000639969 benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2020-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000724715 SCV000721950 benign not provided 2020-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721073 SCV000851958 likely benign History of neurodevelopmental disorder 2013-05-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001274233 SCV001458106 uncertain significance Menkes kinky-hair syndrome 2020-01-24 no assertion criteria provided clinical testing

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