Submissions for variant NM_001360.3(DHCR7):c.126C>T (p.Ser42=)

gnomAD frequency: 0.00031  dbSNP: rs150928869

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152714	SCV000202100	benign	not specified	2016-03-01	criteria provided, single submitter	clinical testing
Invitae	RCV000633529	SCV000754774	benign	Smith-Lemli-Opitz syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316959	SCV000849548	benign	Inborn genetic diseases	2017-05-01	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.
Illumina Laboratory Services, Illumina	RCV000633529	SCV001272045	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab	RCV000633529	SCV001653339	likely benign	Smith-Lemli-Opitz syndrome	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001657862	SCV001874607	benign	not provided	2018-09-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15521979)
Genetic Services Laboratory, University of Chicago	RCV000152714	SCV002071122	benign	not specified	2019-10-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000152714	SCV002548187	likely benign	not specified	2022-05-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001657862	SCV004137206	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	DHCR7: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003975191	SCV004798421	benign	DHCR7-related condition	2019-05-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001657862	SCV001978112	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000152714	SCV001979941	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000633529	SCV002093078	benign	Smith-Lemli-Opitz syndrome	2017-05-05	no assertion criteria provided	clinical testing