Variants in gene XRCC1 - 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	association	drug response	total
2	2	57	25	18	4	1	101

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response	total
not provided	0	1	11	19	17	0	0	44
not specified	0	0	42	1	0	0	0	43
Spinocerebellar ataxia, autosomal recessive 26	2	1	6	0	4	0	0	13
XRCC1-related disorder	0	0	0	7	2	0	0	9
Laryngeal squamous cell carcinoma	0	0	0	0	0	4	0	4
Platinum compounds response - Efficacy	0	0	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response	total
Ambry Genetics	0	0	42	1	0	0	0	43
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	9	12	0	0	21
CeGaT Center for Human Genetics Tuebingen	0	0	9	10	0	0	0	19
Breakthrough Genomics, Breakthrough Genomics	0	0	1	3	9	0	0	13
PreventionGenetics, part of Exact Sciences	0	0	0	7	2	0	0	9
GeneDx	0	1	2	0	3	0	0	6
Genome-Nilou Lab	0	0	0	0	4	0	0	4
Department Of Otolaryngology, First Affiliated Hospital Of Xinjiang Medical University	0	0	0	0	0	4	0	4
OMIM	2	0	0	0	0	0	0	2
Revvity Omics, Revvity	0	0	2	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	0	1
PharmGKB	0	0	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	0	0	1
3billion	0	0	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	0	1

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