Submissions for variant NM_001360.3(DHCR7):c.321+10C>T

gnomAD frequency: 0.00189  dbSNP: rs377108406

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079652	SCV000111535	benign	not specified	2013-05-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000079652	SCV000512800	likely benign	not specified	2017-09-21	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.
Genetic Services Laboratory, University of Chicago	RCV000079652	SCV000594362	likely benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999843	SCV000603311	benign	Smith-Lemli-Opitz syndrome	2018-12-20	criteria provided, single submitter	clinical testing
Invitae	RCV000999843	SCV000630075	benign	Smith-Lemli-Opitz syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999843	SCV001268334	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705739	SCV002497154	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	DHCR7: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705739	SCV001930750	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705739	SCV001965887	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000999843	SCV002093063	likely benign	Smith-Lemli-Opitz syndrome	2017-05-05	no assertion criteria provided	clinical testing