Submissions for variant NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)

gnomAD frequency: 0.00406  dbSNP: rs114734921

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224577	SCV000281187	likely benign	not provided	2016-05-10	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000224577	SCV000526183	likely benign	not provided	2021-11-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000435246	SCV000593225	likely benign	not specified	2015-11-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000435246	SCV000704635	likely benign	not specified	2016-12-20	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000210525	SCV000744938	likely benign	Hereditary spastic paraplegia 47	2017-06-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311321	SCV000846913	benign	Inborn genetic diseases	2016-06-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224577	SCV001147382	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	AP4B1: BP4, BS2
Invitae	RCV000210525	SCV001730166	benign	Hereditary spastic paraplegia 47	2024-01-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847940	SCV002105488	benign	Hereditary spastic paraplegia	2020-11-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000210525	SCV004050639	likely benign	Hereditary spastic paraplegia 47	2023-04-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000210525	SCV000733936	likely benign	Hereditary spastic paraplegia 47		no assertion criteria provided	clinical testing