ClinVar Miner

Variants studied for BENTA disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
29 14 474 665 60 2 1225

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CARD11 28 14 472 665 60 2 1222
AMZ1, BRAT1, CARD11, GNA12, IQCE, LFNG, TTYH3 1 0 0 0 0 0 1
AMZ1, BRAT1, CARD11, GNA12, IQCE, TTYH3 0 0 1 0 0 0 1
CARD11, LOC129997847 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 24 10 454 664 58 0 1210
Fulgent Genetics, Fulgent Genetics 0 2 8 2 0 0 12
Baylor Genetics 0 0 7 0 0 0 7
Genome-Nilou Lab 0 0 0 0 7 0 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 0 0 0 4
Molecular Diagnosis for Inborn Errors of Immunity, Hospital de Pediatria Garrahan 2 0 2 0 0 0 4
OMIM 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Precision Medical Center, Wuhan Children's Hospital 2 0 0 0 0 0 2
3billion 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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