ClinVar Miner

Variants studied for Perlman syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
82 52 1282 804 58 2 2216

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DIS3L2 79 52 1277 804 58 2 2208
DIS3L2, LOC129935854 0 0 2 0 0 0 2
ALPG, ALPI, ALPP, ARMC9, ATG16L1, B3GNT7, C2orf72, CAB39, CHRND, CHRNG, COPS7B, DGKD, DIS3L2, DNAJB3, ECEL1, EFHD1, EIF4E2, GIGYF2, GPR55, HJURP, HTR2B, ITM2C, KCNJ13, MROH2A, NCL, NEU2, NGEF, NMUR1, NPPC, PDE6D, PRSS56, PSMD1, PTMA, SAG, SNORC, SNORD20, SNORD82, SP100, SP110, SP140, SP140L, SPATA3, SPP2, TEX44, TIGD1, TRPM8, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, USP40 0 0 1 0 0 0 1
DIS3 0 0 1 0 0 0 1
DIS3L2, LOC122861312, MIR562 1 0 0 0 0 0 1
DIS3L2, LOC122861313, LOC129935856, LOC129935857, LOC129935858, LOC129935859, LOC129935860, LOC129935861, MIR562 0 0 1 0 0 0 1
DIS3L2, LOC122861313, LOC129935857, LOC129935858 1 0 0 0 0 0 1
DIS3L2, MIR562 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 77 30 1209 787 50 0 2153
Illumina Laboratory Services, Illumina 0 0 76 7 16 0 99
Sema4, Sema4 0 1 24 22 1 0 48
Baylor Genetics 1 19 16 0 0 0 36
Fulgent Genetics, Fulgent Genetics 0 0 19 1 1 0 21
Revvity Omics, Revvity 0 0 10 0 0 0 10
OMIM 4 0 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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