Submissions for variant NM_030665.4(RAI1):c.4039A>G (p.Lys1347Glu)

gnomAD frequency: 0.00070  dbSNP: rs34521483

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193984	SCV000248667	benign	not specified	2016-06-24	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000193984	SCV000614850	uncertain significance	not specified	2016-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317704	SCV000850268	likely benign	Inborn genetic diseases	2017-11-02	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.
GeneDx	RCV001530155	SCV001910171	benign	not provided	2019-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV001530155	SCV002434767	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530155	SCV001744884	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530155	SCV001976034	likely benign	not provided		no assertion criteria provided	clinical testing