Submissions for variant NM_000391.4(TPP1):c.887-6del

dbSNP: rs35039601

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000273949	SCV000373327	uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000273949	SCV000373329	uncertain significance	Neuronal Ceroid-Lipofuscinosis, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000675461	SCV001863097	benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675461	SCV000801146	benign	not provided	2015-10-22	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000675461	SCV001798150	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702419	SCV001929822	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702419	SCV001966184	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001835777	SCV002094846	benign	Neuronal ceroid lipofuscinosis 2	2019-09-25	no assertion criteria provided	clinical testing