ClinVar Miner

Variants studied for Bailey-Bloch congenital myopathy

Included ClinVar conditions (1):
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
12 3 105 106 10 5 234

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
STAC3 12 3 105 105 9 5 232
ATP6V0A4 0 0 0 0 1 0 1
INSR 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 10 1 103 105 8 0 227
OMIM 5 0 0 0 0 0 5
Revvity Omics, Revvity 1 0 4 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1 1 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1

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