Submissions for variant NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu)

gnomAD frequency: 0.00584  dbSNP: rs61746932

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146977	SCV000194313	benign	not specified	2016-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV001088416	SCV000287950	benign	Familial aplasia of the vermis; Orofaciodigital syndrome I	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146977	SCV000309723	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312654	SCV000846480	benign	Primary ciliary dyskinesia; Inborn genetic diseases	2016-01-07	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.
GeneDx	RCV000839199	SCV000981085	benign	not provided	2018-05-10	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000146977	SCV001740233	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000146977	SCV001975611	benign	not specified		no assertion criteria provided	clinical testing