ClinVar Miner

Variants studied for synucleinopathy

Included ClinVar conditions (15):
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 risk factor not provided total
47 15 88 42 60 4 3 254

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PDE8B 3 1 41 9 44 0 0 98
SNCA 6 0 20 28 4 0 1 58
GBA1, LOC106627981 22 7 8 4 0 0 1 40
VAC14 4 2 8 0 6 0 0 20
PDE10A 3 1 1 1 2 0 0 8
IL4I1, NUP62 1 0 3 0 3 0 0 7
SNCB 2 1 4 0 1 0 1 7
COQ2 1 0 0 0 0 3 0 4
GBA1 2 0 2 0 0 0 0 4
COQ2, LOC112997540 0 1 0 0 0 1 0 2
MT-ATP6 2 0 0 0 0 0 0 2
LOC129389225, MMRN1, SNCA 1 0 0 0 0 0 0 1
MAPT 0 0 1 0 0 0 0 1
MFN2 0 1 0 0 0 0 0 1
VCP 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Laboratory Services, Illumina 0 0 36 8 44 0 0 88
Labcorp Genetics (formerly Invitae), Labcorp 6 0 20 25 4 0 0 55
Fulgent Genetics, Fulgent Genetics 23 7 12 10 1 0 0 53
OMIM 16 0 0 0 0 4 0 20
Genome-Nilou Lab 0 0 0 0 13 0 0 13
Neuberg Centre For Genomic Medicine, NCGM 0 1 5 0 0 0 0 6
Baylor Genetics 1 0 3 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 0 4
Mendelics 3 0 0 1 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Genome Medicine, Institute for Basic Research in Developmental Disabilities 0 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 0 1
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 1 0 0 0 0 0 0 1
Guerreiro-Bras Laboratory, Van Andel Institute 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1

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