ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.165-8G>A

gnomAD frequency: 0.00001  dbSNP: rs918998080
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200534 SCV001371525 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV000758258 SCV000882746 affects GNE myopathy 2019-02-11 no assertion criteria provided research The proband has another variant, NM_001128227.2: c.131G>C (p.Cys44Ser).

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