Submissions for variant NM_001318510.2(ACSL4):c.806+3A>G

gnomAD frequency: 0.00097  dbSNP: rs183171123

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000514022	SCV000232203	uncertain significance	not provided	2014-07-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000192340	SCV000246310	benign	not specified	2016-06-27	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514022	SCV000609677	likely benign	not provided	2017-09-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314665	SCV000848432	benign	Inborn genetic diseases	2016-12-09	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.
Invitae	RCV000514022	SCV001012905	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000514022	SCV001740351	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514022	SCV001799803	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000192340	SCV001970954	benign	not specified		no assertion criteria provided	clinical testing