Submissions for variant NM_007347.5(AP4E1):c.1177-9T>C

gnomAD frequency: 0.00333  dbSNP: rs145851652

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192376	SCV000246430	likely benign	not specified	2015-06-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226376	SCV000289852	benign	Spastic paraplegia	2025-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001701787	SCV000531223	benign	not provided	2019-01-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847851	SCV002104972	likely benign	Hereditary spastic paraplegia	2020-03-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259730	SCV002539355	benign	Hereditary spastic paraplegia 51	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259731	SCV002539356	benign	Stuttering, familial persistent, 1	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001701787	SCV005214892	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701787	SCV001927479	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000192376	SCV001964317	benign	not specified		no assertion criteria provided	clinical testing