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
63 107 74 30 31 1 267

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPC1 63 107 74 30 31 1 267

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 11 96 48 5 0 0 160
Invitae 11 9 15 6 11 0 52
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 19 9 0 29
Fulgent Genetics 7 3 12 0 0 0 22
OMIM 18 0 0 0 0 0 18
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 8 9 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 4 12 0 17
Shanghain Institute for Pediatric Research 14 0 0 0 0 0 14
GeneReviews 8 0 0 0 5 0 13
Illumina Clinical Services Laboratory,Illumina 3 2 5 0 0 0 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 7 0 9
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 2 0 2 0 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 4 0 0 0 0 0 4
Mayo Clinic Genetic Testing 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
Shendure Lab,University of Washington 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
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 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
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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