ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.600C>T (p.Ile200=)

gnomAD frequency: 0.02902  dbSNP: rs7047950
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000177230 SCV000306732 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000177230 SCV000345221 benign not specified 2016-08-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000273466 SCV000480106 benign Sialuria 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000328485 SCV000480107 benign GNE myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383169 SCV000480108 benign Inclusion Body Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000177230 SCV000525734 benign not specified 2016-05-24 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.
Invitae RCV000549598 SCV000632653 benign GNE myopathy; Sialuria 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288619 SCV001475877 benign not provided 2020-02-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000328485 SCV001458441 benign GNE myopathy 2020-09-16 no assertion criteria provided clinical testing

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