Variants in gene combination LOC129996517, POLR1C

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	total
1	1	14	13	2	26

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	0	5	11	0	16
Inborn genetic diseases	0	0	4	2	0	6
Treacher Collins syndrome 3	0	0	4	0	1	5
POLR1C-related disorder	0	0	0	2	1	3
Hypomyelinating leukodystrophy 11	1	0	1	0	0	2
Treacher Collins Syndrome, Recessive	0	0	2	0	0	2
Treacher Collins syndrome 3; Hypomyelinating leukodystrophy 11	0	1	1	0	0	2
not specified	0	0	1	1	0	2

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	5	8	0	13
Illumina Laboratory Services, Illumina	0	0	6	0	1	7
Ambry Genetics	0	0	4	2	0	6
GeneDx	0	0	1	2	0	3
PreventionGenetics, part of Exact Sciences	0	0	0	2	1	3
CeGaT Center for Human Genetics Tuebingen	0	0	2	1	0	3
Fulgent Genetics, Fulgent Genetics	0	1	1	0	0	2
Genetic Services Laboratory, University of Chicago	0	0	0	1	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
MyeliNeuroGene Lab, McGill University Health Center Research Institute	1	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	1	0	0	1
Blueprint Genetics	0	0	1	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	1	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	0	1

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