Submissions for variant NM_007347.5(AP4E1):c.2905-8A>G

gnomAD frequency: 0.01851  dbSNP: rs56813592

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476037	SCV000561817	benign	Spastic paraplegia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000116363	SCV000714929	benign	not specified	2018-03-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847662	SCV002105139	benign	Hereditary spastic paraplegia	2020-04-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259614	SCV002539371	benign	Hereditary spastic paraplegia 51	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259615	SCV002539372	benign	Stuttering, familial persistent, 1	2021-12-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116363	SCV000150287	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.