ClinVar Miner

Variants in gene IGSF3

Minimum submission review status: Collection method:
Minimum conflict level:
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
2 2 124 17 9 153

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 119 7 1 127
not provided 1 1 3 7 4 16
IGSF3-related disorder 0 0 0 3 6 9
Familial congenital nasolacrimal duct obstruction 1 1 1 0 0 3
Esophageal atresia; Pyloric stenosis 0 0 1 0 0 1
Myoepithelial tumor 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 119 7 0 126
PreventionGenetics, part of Exact Sciences 0 0 0 3 6 9
CeGaT Center for Human Genetics Tuebingen 0 0 2 5 0 7
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 2 3 5
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 1
GeneDx 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 0 1

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