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
53 20 525 307 58 1 922

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHRND 20 10 252 159 25 0 444
CHRNA1 20 7 208 146 19 0 381
CHRNG 11 3 30 2 4 0 50
CHRNG, TIGD1 1 0 31 0 6 1 38
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

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 11 384 294 34 0 760
Illumina Laboratory Services, Illumina 0 0 145 11 29 0 185
Fulgent Genetics, Fulgent Genetics 2 2 9 1 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 5 0 0 0 0 10
OMIM 9 0 0 0 0 0 9
Baylor Genetics 3 0 3 0 0 0 6
3billion 3 0 1 2 0 0 6
Genome-Nilou Lab 0 0 0 0 4 0 4
Mendelics 0 1 0 0 2 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 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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