Submissions for variant NM_000271.5(NPC1):c.1947+8_1947+9dup

dbSNP: rs3837910

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000607142	SCV001726806	benign	Niemann-Pick disease, type C1	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003983145	SCV004800165	likely benign	NPC1-related condition	2021-03-02	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607142	SCV000733762	likely benign	Niemann-Pick disease, type C1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000607142	SCV000745708	likely benign	Niemann-Pick disease, type C1	2016-07-21	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001580109	SCV001809710	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700170	SCV001923592	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700170	SCV001930484	likely benign	not provided		no assertion criteria provided	clinical testing