ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.961del (p.Arg321fs)

dbSNP: rs1829284063
Minimum review status: Collection method:
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ClinVar version:
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 RCV001092263 SCV001248683 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001092263 SCV001446413 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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