Submissions for variant NM_001360.3(DHCR7):c.906C>T (p.Phe302=)

dbSNP: rs80338858

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724362	SCV000232611	uncertain significance	not provided	2018-02-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000724362	SCV000536084	likely benign	not provided	2021-10-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086880	SCV001015133	likely benign	Smith-Lemli-Opitz syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001086880	SCV001271956	uncertain significance	Smith-Lemli-Opitz syndrome	2017-09-19	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002372104	SCV002688523	likely benign	Inborn genetic diseases	2018-05-18	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724362	SCV004699514	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DHCR7: BP4, BP7
Natera, Inc.	RCV001086880	SCV001460490	likely benign	Smith-Lemli-Opitz syndrome	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937634	SCV004748000	likely benign	DHCR7-related disorder	2019-07-08	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).