ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1245C>T (p.Gly415=)

gnomAD frequency: 0.00059  dbSNP: rs140784655
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000276596 SCV000342858 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000871782 SCV001013494 likely benign GNE myopathy; Sialuria 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091826 SCV001248057 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing GNE: BP4, BP7
GeneDx RCV001091826 SCV001783154 likely benign not provided 2018-12-20 criteria provided, single submitter clinical testing

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