Submissions for variant NM_003611.3(OFD1):c.54A>G (p.Glu18=)

gnomAD frequency: 0.00027  dbSNP: rs147114577

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723696	SCV000112238	uncertain significance	not provided	2014-10-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000251169	SCV000309734	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000251169	SCV000527357	likely benign	not specified	2017-06-14	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.
Invitae	RCV001518323	SCV001726994	benign	Familial aplasia of the vermis; Orofaciodigital syndrome I	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345393	SCV002652747	likely benign	Primary ciliary dyskinesia; Inborn genetic diseases	2015-04-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000723696	SCV004166538	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	OFD1: BP4, BP7, BS2