ClinVar Miner

Variants studied for Lethal multiple pterygium syndrome

Coded as:
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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 total
60 24 564 346 58 1012

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 total
CHRND 24 14 279 180 25 499
CHRNA1 22 7 222 164 19 417
CHRNG 12 3 29 2 4 50
CHRNG, TIGD1 1 0 30 0 6 37
CHRND, CHRNG 0 0 0 0 4 4
ALPG, ALPI, ALPP, CHRND, DIS3L2, ECEL1, PRSS56 0 0 1 0 0 1
ALPI, CHRND, CHRNG, ECEL1, PRSS56 0 0 1 0 0 1
CHRNA1, LOC122861243, LOC129935149, LOC129935150 0 0 1 0 0 1
CHRNA1, LOC129935149, LOC129935150 1 0 0 0 0 1
CHRND, CHRNG, LOC129935864, TIGD1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 42 15 426 335 34 852
Illumina Laboratory Services, Illumina 0 0 145 11 29 185
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 6 0 0 0 13
OMIM 9 0 0 0 0 9
Baylor Genetics 3 0 3 0 0 6
3billion 4 0 1 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Mendelics 0 1 0 0 2 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 3 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 2 0 0 3
Institute of Human Genetics, Cologne University 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1

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