ClinVar Miner

Variants studied for Niemann-Pick disease, type C1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
358 331 601 1155 78 14 2285

Gene and significance breakdown #

Total genes and gene combinations: 9
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 351 329 585 1154 75 14 2256
NPC2 6 2 4 1 2 0 15
NPC1, RMC1 0 0 4 0 0 0 4
NPC2, SYNDIG1L 0 0 2 0 1 0 3
LOC130056094, NPC2 0 0 2 0 0 0 2
MIR4709, NPC2 0 0 2 0 0 0 2
ABHD3, ANKRD29, CABLES1, CTAGE1, ESCO1, GATA6, GREB1L, LAMA3, MIB1, MIR1-2, MIR133A1, NPC1, RBBP8, RIOK3, RMC1, SNRPD1, TMEM241 0 0 1 0 0 0 1
ACYP1, NPC2 0 0 1 0 0 0 1
SMPD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 268 95 415 1128 56 0 1962
Counsyl 12 95 49 5 0 0 161
Illumina Laboratory Services, Illumina 3 4 107 13 25 0 152
Natera, Inc. 30 10 62 23 26 0 151
Centogene AG - the Rare Disease Company 51 27 0 0 0 0 78
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 29 0 0 0 0 74
Fulgent Genetics, Fulgent Genetics 11 8 33 7 5 0 64
Myriad Genetics, Inc. 3 54 3 0 0 0 60
Revvity Omics, Revvity 8 8 14 0 0 0 30
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 18 9 0 28
Genome-Nilou Lab 1 4 8 3 12 0 28
Baylor Genetics 12 2 7 0 0 0 21
OMIM 18 0 0 0 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 8 9 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 3 11 0 15
Shanghain Institute for Pediatric Research 14 0 0 0 0 0 14
GeneReviews 0 0 0 0 0 13 13
Mendelics 9 2 0 0 1 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 7 0 0 0 12
Neuberg Centre For Genomic Medicine, NCGM 2 4 4 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 6 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 3 0 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 3 0 0 0 6
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 0 0 1 0 5
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 3 0 5
3billion 3 1 1 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 2 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 4
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 0 3
New York Genome Center 1 0 2 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 2 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 1 0 0 0 0 2
Shendure Lab, University of Washington 2 0 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1

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.