ClinVar Miner

Variants studied for autonomic nervous system neoplasm

Included ClinVar conditions (19):
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
190 85 1170 451 82 1 1928

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SDHA 37 19 452 184 19 0 686
SDHB 78 25 215 48 9 1 363
SDHC 12 8 154 41 18 0 230
SDHD 44 9 130 33 8 0 218
KIF1B 1 0 90 52 8 0 151
TMEM127 1 19 41 36 3 0 97
RET 8 0 53 31 2 0 93
MAX 0 0 18 19 7 0 44
SDHAF2 1 0 12 6 4 0 23
LOC107303340, VHL 2 4 0 0 0 0 6
LOC106736614, RET 0 0 3 1 1 0 5
VHL 3 1 0 0 0 0 4
MPZ, SDHC 0 0 0 0 2 0 2
PADI2, SDHB 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LOC101928372, LOC112543491, LY9, MIR5187, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 1
CFAP126, SDHC 0 0 0 0 1 0 1
ZMYND11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 146 47 879 237 32 0 1341
Illumina Clinical Services Laboratory,Illumina 0 0 282 204 49 0 535
Counsyl 2 7 55 16 3 0 83
OMIM 60 0 0 0 0 0 60
Fulgent Genetics,Fulgent Genetics 7 0 27 0 0 0 34
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 19
Center for Human Genetics, Inc 14 2 1 0 0 0 17
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 10
CSER_CC_NCGL; University of Washington Medical Center 0 0 4 3 0 0 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 1 0 4 0 6
GeneReviews 4 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 2 0 1 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 2 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 1 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 0 1

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