ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.505+1G>C (rs935855792)

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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 RCV000495931 SCV000583518 pathogenic Ethylmalonic encephalopathy 2017-07-10 no assertion criteria provided clinical testing This variant has not been reported in 1000 genome and ExAC. However, it is described as probably damaging by mutation taster. It has been reported by Trivati et al. 2004. The same variant was found in heterozygous state in a husband. Fetus was found to be homozygous for the same variant during next pregnancy.

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