Submissions for variant NM_004722.4(AP4M1):c.228C>T (p.Pro76=)

gnomAD frequency: 0.00663  dbSNP: rs41280965

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194562	SCV000246441	benign	not specified	2015-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000194562	SCV000526184	benign	not specified	2016-10-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464826	SCV000563493	benign	Hereditary spastic paraplegia 50	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726036	SCV001962068	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	AP4M1: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847853	SCV002105761	benign	Hereditary spastic paraplegia	2022-01-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000464826	SCV002803511	likely benign	Hereditary spastic paraplegia 50	2021-12-20	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001726036	SCV005221137	likely benign	not provided		criteria provided, single submitter	not provided