Submissions for variant NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)

gnomAD frequency: 0.00118  dbSNP: rs143713841

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080019	SCV000111913	uncertain significance	not provided	2014-08-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000146990	SCV000194327	benign	not specified	2019-06-12	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000080019	SCV000281540	likely benign	not provided	2016-02-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000146990	SCV000514009	benign	not specified	2015-09-04	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV002316238	SCV000851902	benign	Inborn genetic diseases	2017-08-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV000080019	SCV001013639	benign	not provided	2023-12-22	criteria provided, single submitter	clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV002251969	SCV002523609	likely benign	See cases	2020-03-11	criteria provided, single submitter	clinical testing	ACMG classification criteria: BS1, BP4
PreventionGenetics, part of Exact Sciences	RCV003935040	SCV004755906	likely benign	OPHN1-related condition	2019-07-15	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000080019	SCV001798031	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000080019	SCV001932604	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000080019	SCV001966208	likely benign	not provided		no assertion criteria provided	clinical testing