Submissions for variant NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)

gnomAD frequency: 0.00385  dbSNP: rs36095561

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146991	SCV000194328	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514598	SCV000610045	likely benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312971	SCV000848200	benign	Inborn genetic diseases	2016-06-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514598	SCV001014996	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000514598	SCV001859855	benign	not provided	2019-03-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483285	SCV002795026	likely benign	X-linked intellectual disability-cerebellar hypoplasia syndrome	2021-09-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544342	SCV004798635	benign	OPHN1-related disorder	2019-05-13	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).