ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) (rs146867923)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079659 SCV000111542 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380891 SCV000373930 uncertain significance Smith-Lemli-Opitz syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genetic Services Laboratory, University of Chicago RCV000079659 SCV000594363 likely benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717684 SCV000848540 likely benign History of neurodevelopmental disorder 2018-07-31 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Invitae RCV000380891 SCV001021812 likely benign Smith-Lemli-Opitz syndrome 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001554963 SCV001776304 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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