ClinVar Miner

Variants studied for Niemann-Pick disease, type C1

Coded as:
Minimum submission review status: Collection method:
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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
358 314 591 1152 78 14 2277

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 355 314 578 1151 75 14 2257
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
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
ANKRD29, CABLES1, LAMA3, NPC1, RBBP8, RIOK3, RMC1, TMEM241 1 0 0 0 0 0 1
SMPD1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 276 96 415 1128 56 0 1971
Counsyl 12 95 49 5 0 0 161
Natera, Inc. 30 10 62 23 26 0 151
Illumina Laboratory Services, Illumina 3 4 96 10 25 0 138
Centogene AG - the Rare Disease Company 51 27 0 0 0 0 78
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
Neuberg Centre For Genomic Medicine, NCGM 4 7 5 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 8 0 0 0 15
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
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 6 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 0 3 0 0 0 8
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 2 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 0 0 1 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 3 0 0 0 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
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

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