ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) (rs2227291)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078034 SCV000109872 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000078034 SCV000167125 benign not specified 2013-12-11 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 RCV000078034 SCV000246677 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078034 SCV000301687 benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078034 SCV000538373 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000078034 SCV000602581 benign not specified 2018-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715436 SCV000846265 benign History of neurodevelopmental disorder 2014-11-24 criteria provided, single submitter clinical testing
Mendelics RCV000990880 SCV001141932 benign Menkes kinky-hair syndrome 2019-05-28 criteria provided, single submitter clinical testing

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