ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.442-4A>C

gnomAD frequency: 0.00742  dbSNP: rs114950106
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178919 SCV000231099 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000320741 SCV000388519 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081149 SCV000762279 benign Niemann-Pick disease, type C2 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000675983 SCV001771700 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675983 SCV005212546 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675983 SCV000801715 likely benign not provided 2017-09-21 no assertion criteria provided clinical testing
Natera, Inc. RCV001081149 SCV001464114 benign Niemann-Pick disease, type C2 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000675983 SCV001808827 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000178919 SCV001917121 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.