Submissions for variant NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)

gnomAD frequency: 0.00009  dbSNP: rs147850435

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180568	SCV000233035	uncertain significance	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314676	SCV000847480	likely benign	Inborn genetic diseases	2016-08-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080017	SCV001114012	likely benign	Smith-Lemli-Opitz syndrome	2025-01-31	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001080017	SCV002092991	likely benign	Smith-Lemli-Opitz syndrome	2020-10-19	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004748640	SCV005348318	likely benign	DHCR7-related disorder	2024-06-20	no assertion criteria provided	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).