Submissions for variant NM_000271.5(NPC1):c.2795+19T>C

gnomAD frequency: 0.00342  dbSNP: rs200103695

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175269	SCV000226729	benign	not specified	2014-08-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000607454	SCV000743480	benign	Niemann-Pick disease, type C1	2016-03-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000607454	SCV001721460	benign	Niemann-Pick disease, type C1	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001668336	SCV001883139	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000607454	SCV002799117	benign	Niemann-Pick disease, type C1	2021-09-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668336	SCV005251283	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607454	SCV000733756	likely benign	Niemann-Pick disease, type C1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000607454	SCV000745698	likely benign	Niemann-Pick disease, type C1	2017-02-20	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000175269	SCV001918631	benign	not specified		no assertion criteria provided	clinical testing