ClinVar Miner

Submissions for variant NC_000010.10:g.(?_135175966)_(135180498_135182426)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000449599 SCV000537754 pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 2016-09-21 criteria provided, single submitter clinical testing This heterozygous deletion in the ECHS1 gene (autosomal recessive transmission) is present in a female patient who also harbours a missense variant in the same gene compound heterozygosity)

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