Variants in gene ATXN3 - ClinVar Miner

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
0	1	30	9	4	1	39

Condition and significance breakdown #

Total conditions: 6

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Condition	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Inborn genetic diseases	0	23	1	0	0	24
not provided	0	4	2	3	0	9
ATXN3-related disorder	0	0	3	3	0	6
not specified	0	3	3	1	0	6
Azorean disease	1	1	0	0	1	3
Tip-toe gait	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Ambry Genetics	0	23	1	0	0	24
PreventionGenetics, part of Exact Sciences	0	0	3	3	0	6
Genetic Services Laboratory, University of Chicago	0	2	3	0	0	5
Breakthrough Genomics, Breakthrough Genomics	0	2	0	3	0	5
CeGaT Center for Human Genetics Tuebingen	0	1	2	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	1	2	0	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1
GeneDx	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	1
GeneReviews	0	0	0	0	1	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino	0	1	0	0	0	1

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