ClinVar Miner

Variants studied for Hajdu-Cheney syndrome

Coded as:
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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 total
45 17 824 569 86 1537

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 total
NOTCH2 44 17 822 569 86 1534
ADAM30, ATP1A1, CD101, CD2, CD58, FAM72B, GDAP2, HAO2, HMGCS2, HSD3B1, HSD3B2, IGSF3, MAB21L3, MAN1A2, NOTCH2, PHGDH, PTGFRN, REG4, SPAG17, SRGAP2C, TBX15, TENT5C, TENT5C-DT, TRIM45, TTF2, VTCN1, WARS2, WDR3, ZNF697 1 0 0 0 0 1
ADAM30, HAO2, HMGCS2, HSD3B1, HSD3B2, NOTCH2, PHGDH, REG4, TBX15, WARS2, ZNF697 0 0 1 0 0 1
ADAM30, HMGCS2, NOTCH2, PHGDH, REG4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 29 6 810 567 81 1493
3billion 1 4 2 0 0 7
OMIM 7 0 0 0 0 7
Mendelics 1 0 1 2 2 6
Baylor Genetics 2 0 3 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 2 0 0 5
Genome-Nilou Lab 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Metabolic Disease laboratory, Sheba Medical Center 2 0 0 0 0 2
Variantyx, Inc. 1 1 0 0 0 2
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1

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