Submissions for variant NM_004722.4(AP4M1):c.930G>A (p.Arg310=)

gnomAD frequency: 0.00053  dbSNP: rs141754568

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203025	SCV000257999	uncertain significance	not specified	2015-07-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000203025	SCV000593248	likely benign	not specified	2015-11-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000559361	SCV000649250	likely benign	Hereditary spastic paraplegia 50	2024-12-19	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847910	SCV002105883	uncertain significance	Hereditary spastic paraplegia	2022-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002292486	SCV002586180	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	AP4M1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003927869	SCV004739520	likely benign	AP4M1-related disorder	2021-02-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).