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

dbSNP: rs61742891

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000146981	SCV000309728	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000456906	SCV000554674	benign	Familial aplasia of the vermis; Orofaciodigital syndrome I	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000146981	SCV000729097	benign	not specified	2018-01-18	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	RCV002312655	SCV000847327	benign	Primary ciliary dyskinesia; Inborn genetic diseases	2014-12-15	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	RCV000146981	SCV001879890	benign	not specified	2021-03-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000146981	SCV000194317	likely benign	not specified		no assertion criteria provided	clinical testing