ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.471del (p.His158fs) (rs1570467252)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 1

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	RCV000824897	SCV000965818	likely pathogenic	Neuronal ceroid lipofuscinosis 1		no assertion criteria provided	clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.