Submissions for variant NM_003611.3(OFD1):c.2052C>G (p.Ser684=)

dbSNP: rs61742891

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175045	SCV000226472	benign	not specified	2014-10-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000175045	SCV000309727	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000559679	SCV000637357	benign	Familial aplasia of the vermis; Orofaciodigital syndrome I	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000175045	SCV000729610	benign	not specified	2017-07-17	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	RCV002313038	SCV000847813	benign	Primary ciliary dyskinesia; Inborn genetic diseases	2015-07-12	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001795293	SCV002033854	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000175045	SCV002034434	benign	not specified		no assertion criteria provided	clinical testing