ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1281+6A>T (rs201025841)

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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 RCV000725111 SCV000334073 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302070 SCV000480098 likely benign Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356902 SCV000480099 likely benign Sialuria 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262109 SCV000480100 likely benign GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000554359 SCV000632642 uncertain significance GNE myopathy; Sialuria 2017-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000272582 SCV000732402 likely benign not specified 2018-01-02 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.

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