ClinVar Miner

Variants studied for Niemann-Pick disease, type C1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
397 411 689 1259 78 14 2558

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 393 411 676 1258 75 14 2537
NPC2 1 0 4 1 2 0 8
NPC1, RMC1 0 0 3 0 0 0 3
NPC2, SYNDIG1L 0 0 2 0 1 0 3
MIR4709, NPC2 0 0 2 0 0 0 2
SMPD1 2 0 0 0 0 0 2
ABHD3, ANKRD29, CABLES1, CTAGE1, ESCO1, GATA6, GREB1L, LAMA3, MIB1, MIR1-2, MIR133A1, NPC1, RBBP8, RIOK3, RMC1, SLC35D4, SNRPD1 0 0 1 0 0 0 1
ACYP1, NPC2 0 0 1 0 0 0 1
ANKRD29, CABLES1, LAMA3, NPC1, RBBP8, RIOK3, RMC1, SLC35D4 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 77
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 304 104 420 1235 56 0 2119
Natera, Inc. 68 101 155 23 26 0 373
Counsyl 12 95 49 5 0 0 161
Illumina Laboratory Services, Illumina 3 4 91 10 25 0 133
CENTOGENE GmbH and LLC - Guiding Precision Medicine 51 27 0 0 0 0 78
Myriad Genetics, Inc. 4 62 2 0 0 0 68
Fulgent Genetics, Fulgent Genetics 11 8 33 7 5 0 64
Revvity Omics, Revvity 10 13 18 0 0 0 41
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
Neuberg Centre For Genomic Medicine, NCGM 5 10 6 0 0 0 21
3billion 10 5 4 0 0 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 8 0 0 0 19
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 8 9 0 18
OMIM 18 0 0 0 0 0 18
Department of Pathology and Laboratory Medicine, Sinai Health System 2 4 11 0 0 0 17
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 2 3 0 0 0 12
Mendelics 9 2 0 0 1 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 6 0 8
Institute of Human Genetics Munich, TUM University Hospital 4 3 0 0 0 0 7
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 5 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 5 0 1 0 0 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 1 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 0 0 1 0 5
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 1 3 0 5
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 0 5
Genomics England Pilot Project, Genomics England 4 0 0 0 0 0 4
New York Genome Center 1 0 3 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 1 0 3
Solve-RD Consortium 0 3 0 0 0 0 3
Variantyx, Inc. 2 1 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Center of Human Genetics, Hôpital Erasme 2 0 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 1 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 0 0 2
Hereditary Research Laboratory, Bethlehem University 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 1 0 0 0 0 2
Medical Molecular Genetics Department, National Research Center 0 2 0 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 0 0 0 0 2
Shendure Lab, University of Washington 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 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
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1

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