ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.549C>T (p.Cys183=) (rs115446684)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251407 SCV000307648 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000716430 SCV000847271 likely benign History of neurodevelopmental disorder 2016-07-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000876016 SCV001018520 benign Smith-Lemli-Opitz syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000876016 SCV001267482 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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