ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.438T>C (p.Asn146=) (rs949177)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079654 SCV000111537 benign not specified 2018-06-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079654 SCV000307647 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355894 SCV000373921 benign Smith-Lemli-Opitz syndrome 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000355894 SCV000603307 benign Smith-Lemli-Opitz syndrome 2020-08-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000355894 SCV000677272 benign Smith-Lemli-Opitz syndrome 2017-05-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000355894 SCV000743879 benign Smith-Lemli-Opitz syndrome 2014-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715262 SCV000846090 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079654 SCV000966288 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asn146Asn in exon 6 of DHCR7: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 94.35% (62491/66236) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.; dbSNP rs949177).
Invitae RCV000355894 SCV001729861 benign Smith-Lemli-Opitz syndrome 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000355894 SCV001749263 benign Smith-Lemli-Opitz syndrome 2021-07-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000355894 SCV000733108 benign Smith-Lemli-Opitz syndrome no assertion criteria provided clinical testing

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