Submissions for variant NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)

gnomAD frequency: 0.00017  dbSNP: rs148208753

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000951869	SCV000514010	likely benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23552953)
Ambry Genetics	RCV002314155	SCV000847942	benign	Inborn genetic diseases	2017-11-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Eurofins Ntd Llc (ga)	RCV000438005	SCV000863011	likely benign	not specified	2018-08-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951869	SCV001098315	benign	not provided	2024-11-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000951869	SCV001150339	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	OPHN1: PM5, BS2
Fulgent Genetics, Fulgent Genetics	RCV002502479	SCV002812416	likely benign	X-linked intellectual disability-cerebellar hypoplasia syndrome	2021-09-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000951869	SCV005210572	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000951869	SCV001800168	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000951869	SCV001932702	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000951869	SCV001967503	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530541	SCV004752061	likely benign	OPHN1-related disorder	2021-07-05	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).