ClinVar Miner

Variants studied for Congenital heart defects and skeletal malformations syndrome

Coded as:
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
6 11 11 0 0 26

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABL1 6 10 11 25
ABL1, LOC107980440 0 1 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance total
Baylor Genetics 0 4 2 6
OMIM 5 0 0 5
Human Development and Health, University of Southampton 1 3 1 5
AiLife Diagnostics, AiLife Diagnostics 2 0 1 3
3billion 0 1 2 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 2
MGZ Medical Genetics Center 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 1
University of Washington Center for Mendelian Genomics, University of Washington 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 1

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