Submissions for variant NM_001360.3(DHCR7):c.99-5C>T

gnomAD frequency: 0.00019  dbSNP: rs372886043

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000328550	SCV000373929	uncertain significance	Smith-Lemli-Opitz syndrome	2018-01-12	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.
Eurofins Ntd Llc (ga)	RCV000591841	SCV000704664	uncertain significance	not provided	2018-01-12	criteria provided, single submitter	clinical testing
Counsyl	RCV000328550	SCV000798346	uncertain significance	Smith-Lemli-Opitz syndrome	2018-03-07	criteria provided, single submitter	clinical testing
Invitae	RCV000328550	SCV001020216	likely benign	Smith-Lemli-Opitz syndrome	2024-01-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000591841	SCV001894582	likely benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28250423)
Ambry Genetics	RCV002379182	SCV002694022	uncertain significance	Inborn genetic diseases	2021-05-01	criteria provided, single submitter	clinical testing	The c.99-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before coding exon 2 in the DHCR7 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000328550	SCV003829081	uncertain significance	Smith-Lemli-Opitz syndrome	2022-06-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930297	SCV004739901	likely benign	DHCR7-related disorder	2019-05-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).