ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.[2086G>A];[385C>T]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000494439 SCV000580671 pathogenic GNE myopathy 2017-07-06 no assertion criteria provided clinical testing The observed variant is likely to be pathogenic by In Silico analysis using Mutation taster, Polyphen2 and SIFT. Elder sister is also affected with same condition and found to have same compound heterozygous mutation.

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