ClinVar Miner

Variants studied for Perlman syndrome

Coded as:
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
80 44 1278 804 58 2 2203

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 77 44 1273 804 58 2 2195
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 26 1206 787 50 0 2144
Illumina Laboratory Services, Illumina 0 0 76 7 16 0 99
Sema4, Sema4 0 1 24 22 1 0 48
Baylor Genetics 1 15 16 0 0 0 32
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

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