ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2793C>T (p.Asn931=) (rs1140458)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078475 SCV000110331 benign not specified 2015-07-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078475 SCV000303375 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020228 SCV000407856 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000020228 SCV000744743 benign Niemann-Pick disease type C1 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000020228 SCV000745699 benign Niemann-Pick disease type C1 2016-04-22 criteria provided, single submitter clinical testing
Invitae RCV000020228 SCV001725528 benign Niemann-Pick disease type C1 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000020228 SCV001737964 benign Niemann-Pick disease type C1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000675560 SCV001836967 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
GeneReviews RCV000020228 SCV000040571 benign Niemann-Pick disease type C1 2008-07-22 no assertion criteria provided curation Converted during submission to Benign.
Genetic Services Laboratory, University of Chicago RCV000078475 SCV000152094 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000020228 SCV000733757 benign Niemann-Pick disease type C1 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675560 SCV000801251 benign not provided 2015-10-21 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078475 SCV001921679 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078475 SCV001956057 benign not specified no assertion criteria provided clinical testing

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