Submissions for variant NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=)

gnomAD frequency: 0.00183  dbSNP: rs115003742

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193762	SCV000249055	uncertain significance	not specified	2015-07-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000723604	SCV000331371	uncertain significance	not provided	2016-06-22	criteria provided, single submitter	clinical testing
Invitae	RCV001079327	SCV000633945	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315508	SCV000848073	likely benign	Inborn genetic diseases	2016-02-09	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	RCV000723604	SCV004123716	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ST3GAL3: BP4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000723604	SCV001743016	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723604	SCV001926880	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723604	SCV001971671	likely benign	not provided		no assertion criteria provided	clinical testing