ClinVar Miner

Variants studied for Perlman syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
84 53 1302 836 58 2 2266

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 81 53 1297 836 58 2 2258
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 77 30 1219 818 50 0 2194
Illumina Laboratory Services, Illumina 0 0 71 6 16 0 93
Fulgent Genetics, Fulgent Genetics 0 1 59 1 1 0 62
Sema4, Sema4 0 1 24 22 1 0 48
Baylor Genetics 1 19 16 0 0 0 36
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 18 1 0 0 21
Revvity Omics, Revvity 0 0 12 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 1 0 0 10
OMIM 4 0 0 0 0 0 4
3billion 0 1 0 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 1 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 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
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1

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