Submissions for variant NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) (rs13381670)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000180479	SCV000232932	benign	not specified	2014-12-30	criteria provided, single submitter	clinical testing
Invitae	RCV000602955	SCV001013756	likely benign	Niemann-Pick disease type C1	2019-12-31	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000602955	SCV001286950	benign	Niemann-Pick disease type C1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000602955	SCV000733767	benign	Niemann-Pick disease type C1		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam	RCV000602955	SCV000745714	likely benign	Niemann-Pick disease type C1	2017-06-26	no assertion criteria provided	clinical testing