ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1070+7A>G

gnomAD frequency: 0.00003  dbSNP: rs149675783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000311555 SCV000343328 uncertain significance not provided 2016-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089333 SCV001015712 likely benign GNE myopathy; Sialuria 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273956 SCV001457586 uncertain significance GNE myopathy 2020-01-24 no assertion criteria provided clinical testing

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