ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.226G>A (p.Val76Ile) (rs368473756)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716769 SCV000847612 likely benign History of neurodevelopmental disorder 2019-03-01 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)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728546 SCV000856137 benign not specified 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV000882330 SCV001025562 benign Smith-Lemli-Opitz syndrome 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000882330 SCV001270543 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001672935 SCV001884550 benign not provided 2020-12-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26350204)

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