Submissions for variant NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)

gnomAD frequency: 0.00656  dbSNP: rs140843407

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116367	SCV000150291	benign	not specified	2013-04-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204524	SCV000262033	benign	Hereditary spastic paraplegia 50	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000116367	SCV000714726	benign	not specified	2017-03-28	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	RCV001847664	SCV002105650	benign	Hereditary spastic paraplegia	2021-10-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000204524	SCV002795350	likely benign	Hereditary spastic paraplegia 50	2021-12-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004712035	SCV005267650	benign	not provided		criteria provided, single submitter	not provided