Submissions for variant NM_000271.5(NPC1):c.1947+7_1947+8insCGGG

dbSNP: rs1555634618

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000381605	SCV000337344	likely benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000649028	SCV000770853	benign	Niemann-Pick disease, type C1	2025-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573088	SCV005889764	benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	NPC1: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573088	SCV001798439	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001573088	SCV001809685	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000381605	SCV001972867	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000649028	SCV002095199	likely benign	Niemann-Pick disease, type C1	2019-09-27	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920080	SCV004736431	benign	NPC1-related disorder	2023-11-15	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).