ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.1328G>A (p.Arg443His) (rs781687341)

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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 RCV000449623 SCV000537709 pathogenic Smith-Lemli-Opitz syndrome 2016-09-14 criteria provided, single submitter clinical testing This heterozygous missense variant in the DHCR7 gene (autosomal recessive transmission) inherited from the father was found to be present in combination with a second missense variant in the same gene (compound heterozygosity) in a young female patient with a severe form of ASD

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