ClinVar Miner

Variants studied for lethal multiple pterygium syndrome

Included ClinVar conditions (6):
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
63 50 570 348 58 1 1042

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHRND 24 15 279 181 25 0 500
CHRNA1 22 9 225 165 19 0 419
CHRNG 15 20 31 2 4 0 70
CHRNG, TIGD1 1 5 31 0 6 1 43
CHRND, CHRNG 0 0 0 0 4 0 4
ALPG, ALPI, ALPP, CHRND, DIS3L2, ECEL1, PRSS56 0 0 1 0 0 0 1
ALPI, CHRND, CHRNG, ECEL1, PRSS56 0 0 1 0 0 0 1
CHRNA1, LOC122861243, LOC129935149, LOC129935150 0 0 1 0 0 0 1
CHRNA1, LOC129935149, LOC129935150 1 0 0 0 0 0 1
CHRND, CHRNG, LOC129935864, TIGD1 0 0 1 0 0 0 1
CHRNG, LOC129935864 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 42 15 426 335 34 0 852
Illumina Laboratory Services, Illumina 0 0 145 11 29 0 185
Fulgent Genetics, Fulgent Genetics 9 25 9 1 0 0 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 0 0 0 0 13
OMIM 9 0 0 0 0 0 9
3billion 4 0 1 2 0 0 7
Baylor Genetics 3 0 3 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 3 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
Mendelics 0 1 0 0 2 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 0 3
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 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 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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