ClinVar Miner

Variants studied for Short-rib thoracic dysplasia 11 with or without polydactyly

Coded as:
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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
33 7 199 172 24 430

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
DYNC2I2 22 6 127 125 17 294
DYNC2I2, LOC126860772 9 1 70 47 7 132
DYNC2I2, LOC126860772, SPTAN1 1 0 1 0 0 2
DYNC2I2, SPTAN1 1 0 1 0 0 2

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 27 3 196 171 24 421
OMIM 9 0 0 0 0 9
Revvity Omics, Revvity Omics 1 2 2 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 0 1 1 1 0 3
Baylor Genetics 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 1
3billion 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1

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