Submissions for variant NM_000271.5(NPC1):c.1947+10G>C

dbSNP: rs71534236

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078468	SCV000110324	benign	not specified	2013-02-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608902	SCV000407877	likely benign	Niemann-Pick disease, type C1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000608902	SCV001013460	likely benign	Niemann-Pick disease, type C1	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000675571	SCV001911431	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000608902	SCV002809150	benign	Niemann-Pick disease, type C1	2022-01-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675571	SCV004010592	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	NPC1: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608902	SCV000733765	likely benign	Niemann-Pick disease, type C1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000608902	SCV000745712	likely benign	Niemann-Pick disease, type C1	2016-06-20	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675571	SCV000801262	likely benign	not provided	2017-05-10	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000078468	SCV001808733	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078468	SCV001923832	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000608902	SCV002095198	benign	Niemann-Pick disease, type C1	2019-10-21	no assertion criteria provided	clinical testing