Submissions for variant NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)

gnomAD frequency: 0.00525  dbSNP: rs34249695

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514831	SCV000610134	likely benign	not provided	2017-05-30	criteria provided, single submitter	clinical testing
Invitae	RCV001086576	SCV000771104	benign	Hereditary spastic paraplegia 47	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312628	SCV000846643	benign	Inborn genetic diseases	2016-05-11	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.
GeneDx	RCV000514831	SCV001819029	likely benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001086576	SCV004050700	likely benign	Hereditary spastic paraplegia 47	2023-04-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145018	SCV000192055	likely benign	not specified		no assertion criteria provided	clinical testing