ClinVar Miner

Variants studied for Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly

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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 not provided total
83 32 587 407 54 2 1162

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
KIAA0586 82 32 587 407 54 2 1161
ARID4A, KIAA0586, PSMA3, TIMM9, TOMM20L 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 83 30 587 406 54 0 1160
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1

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