ClinVar Miner

Variants studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14

Included ClinVar conditions (2):
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 total
30 10 128 119 7 287

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GMPPB 28 10 122 111 6 270
GMPPB, LOC129936764 2 0 6 8 1 17

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 28 7 121 119 7 282
Fulgent Genetics, Fulgent Genetics 2 0 1 0 0 3
OMIM 2 0 0 0 0 2
Baylor Genetics 0 1 1 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 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 1
Breda Genetics srl 0 0 1 0 0 1
New York Genome Center 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1

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