Submissions for variant NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) (rs138108344)

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146996	SCV000194333	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000418701	SCV000510824	benign	not provided	2016-09-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000146996	SCV000514008	benign	not specified	2015-07-30	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	RCV000716916	SCV000847761	benign	History of neurodevelopmental disorder	2016-09-06	criteria provided, single submitter	clinical testing	Subpopulation frequency in support of benign classification;In silico models in agreement (benign);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Invitae	RCV000418701	SCV001019966	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000605251	SCV000734792	likely benign	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance		no assertion criteria provided	clinical testing