ClinVar Miner

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

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Total submissions: 5
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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

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