Submissions for variant NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys)

gnomAD frequency: 0.00190  dbSNP: rs149571533

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518613	SCV000615321	benign	not specified	2016-09-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528567	SCV000629414	benign	Spastic paraplegia	2024-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001092435	SCV001248948	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	SLC33A1: PP2, BS1
GeneDx	RCV001092435	SCV001758671	benign	not provided	2020-01-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848699	SCV002105207	likely benign	Hereditary spastic paraplegia	2019-04-01	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000518613	SCV001956238	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001092435	SCV001967141	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004748737	SCV005353717	benign	SLC33A1-related disorder	2024-05-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).