ClinVar Miner

Variants studied for Rienhoff syndrome

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 not provided total
35 23 198 148 14 1 413

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 not provided total
TGFB3 35 22 198 148 14 1 412
LOC130056139, TGFB3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 30 19 187 147 14 0 397
Fulgent Genetics, Fulgent Genetics 0 2 22 5 0 0 29
OMIM 6 0 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
3billion 0 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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