Submissions for variant NM_001360.3(DHCR7):c.438T>C (p.Asn146=)

gnomAD frequency: 0.90629  dbSNP: rs949177

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079654	SCV000111537	benign	not specified	2018-06-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079654	SCV000307647	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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	2021-10-05	criteria provided, single submitter	clinical testing
Athena Diagnostics	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	RCV002311597	SCV000846090	benign	Inborn genetic diseases	2016-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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, Mass General Brigham 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. broadinstitute.org; dbSNP rs949177).
Invitae	RCV000355894	SCV001729861	benign	Smith-Lemli-Opitz syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000355894	SCV001749263	benign	Smith-Lemli-Opitz syndrome	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705740	SCV001888903	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000355894	SCV002805088	benign	Smith-Lemli-Opitz syndrome	2021-08-02	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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079654	SCV001956997	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000355894	SCV002093054	benign	Smith-Lemli-Opitz syndrome	2017-05-05	no assertion criteria provided	clinical testing