Submissions for variant NM_001360.3(DHCR7):c.207T>C (p.Thr69=)

gnomAD frequency: 0.90380  dbSNP: rs1790334

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079649	SCV000111532	benign	not specified	2018-06-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079649	SCV000307643	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368185	SCV000373927	benign	Smith-Lemli-Opitz syndrome	2018-01-13	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.
GeneDx	RCV000079649	SCV000512798	benign	not specified	2015-12-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000368185	SCV000603308	benign	Smith-Lemli-Opitz syndrome	2021-10-05	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000368185	SCV000677270	benign	Smith-Lemli-Opitz syndrome	2017-05-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311595	SCV000846037	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.
Invitae	RCV000368185	SCV001717084	benign	Smith-Lemli-Opitz syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000368185	SCV001749268	benign	Smith-Lemli-Opitz syndrome	2021-07-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079649	SCV001744236	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079649	SCV001955537	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000368185	SCV002093072	benign	Smith-Lemli-Opitz syndrome	2017-05-05	no assertion criteria provided	clinical testing