Submissions for variant NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr)

gnomAD frequency: 0.00190  dbSNP: rs144015992

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000633077	SCV000754289	likely benign	Spastic paraplegia	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001573267	SCV001863367	benign	not provided	2021-06-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31227335)
Athena Diagnostics	RCV001660715	SCV001879945	benign	not specified	2021-04-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848697	SCV002105208	likely benign	Hereditary spastic paraplegia	2020-11-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488743	SCV002796179	likely benign	Hereditary spastic paraplegia 42; Huppke-Brendel syndrome	2021-12-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573267	SCV004700293	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SLC33A1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001573267	SCV005260937	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573267	SCV001798867	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573267	SCV001971801	likely benign	not provided		no assertion criteria provided	clinical testing