ClinVar Miner

Submissions for variant NM_022726.4(ELOVL4):c.289-2A>G (rs1554162524)

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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 RCV000497810 SCV000586696 likely pathogenic Ichthyosis, spastic quadriplegia, and mental retardation 2017-07-06 no assertion criteria provided clinical testing This variant has not been reported in 1000 Genomes and ExAC. However, this variant is been reported as damaging by Mutation Taster.

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