ClinVar Miner

Variants in gene EXTL3

Minimum submission review status: Collection method:
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Gene type:
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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
4 2 250 261 16 523

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 1 0 216 258 16 486
Inborn genetic diseases 0 0 70 2 0 72
EXTL3-related disorder 0 0 1 10 0 11
Immunoskeletal dysplasia with neurodevelopmental abnormalities 3 2 4 2 0 11

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 214 253 15 482
Ambry Genetics 0 0 70 2 0 72
Breakthrough Genomics, Breakthrough Genomics 0 0 3 5 9 17
PreventionGenetics, part of Exact Sciences 0 0 1 10 0 11
CeGaT Center for Human Genetics Tuebingen 0 0 1 8 2 11
GeneDx 1 0 3 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
OMIM 3 0 0 0 0 3
Baylor Genetics 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 1
New York Genome Center 0 1 0 0 0 1

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