Submissions for variant NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)

dbSNP: rs531550505

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173568	SCV000224692	benign	not specified	2015-04-23	criteria provided, single submitter	clinical testing
Invitae	RCV000206798	SCV000262333	benign	Hereditary spastic paraplegia 6	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272705	SCV000390095	likely benign	Spastic paraplegia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001573571	SCV000729973	benign	not provided	2018-06-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000173568	SCV002517731	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000173568	SCV001741301	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573571	SCV001799638	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000173568	SCV001919782	benign	not specified		no assertion criteria provided	clinical testing