Submissions for variant NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly)

gnomAD frequency: 0.00187  dbSNP: rs143954823

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000435088	SCV000194316	benign	not specified	2017-08-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000146980	SCV000533090	likely benign	not provided	2019-12-11	criteria provided, single submitter	clinical testing
Invitae	RCV001088497	SCV000554670	benign	Familial aplasia of the vermis; Orofaciodigital syndrome I	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316945	SCV000851929	benign	Primary ciliary dyskinesia; Inborn genetic diseases	2018-01-24	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.
Athena Diagnostics Inc	RCV000146980	SCV001144787	benign	not provided	2018-10-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000435088	SCV001978175	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000146980	SCV001980440	likely benign	not provided		no assertion criteria provided	clinical testing