ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1817-81G>C

gnomAD frequency: 0.15990  dbSNP: rs2296817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841730 SCV000983712 benign not provided 2018-06-19 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.
Genome-Nilou Lab RCV001543752 SCV001762606 benign Sialuria 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543753 SCV001762607 benign GNE myopathy 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000841730 SCV005265628 benign not provided criteria provided, single submitter not provided

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