ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1770C>T (p.Tyr590=) (rs111302956)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000081296 SCV000306728 benign not specified 2016-01-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081296 SCV000345897 benign not specified 2016-09-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305741 SCV000480095 likely benign Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341756 SCV000480096 likely benign GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395486 SCV000480097 likely benign Sialuria 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000081296 SCV000524134 benign not specified 2016-03-10 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 RCV000556731 SCV000632648 benign GNE myopathy; Sialuria 2017-08-07 criteria provided, single submitter clinical testing

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