ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.644A>G (p.His215Arg)

gnomAD frequency: 0.29390  dbSNP: rs1805081
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078484 SCV000110340 benign not specified 2015-07-24 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000078484 SCV000303388 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000610094 SCV000407886 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000078484 SCV000539947 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000610094 SCV000744750 benign Niemann-Pick disease, type C1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000610094 SCV001730414 benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000610094 SCV001737988 benign Niemann-Pick disease, type C1 2021-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078484 SCV000152096 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 RCV000610094 SCV000733768 benign Niemann-Pick disease, type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000610094 SCV000745718 benign Niemann-Pick disease, type C1 2016-10-05 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675581 SCV000801272 benign not provided 2015-10-21 no assertion criteria provided clinical testing
Natera, Inc. RCV000610094 SCV001455882 benign Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078484 SCV001921398 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000078484 SCV001959384 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.