Variants in gene RFXAP - 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	total
10	4	74	31	10	123

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MHC class II deficiency	5	1	66	29	10	108
not specified	0	0	12	0	0	12
not provided	1	0	3	3	4	11
MHC class II deficiency 4	5	3	0	0	0	8
RFXAP-related disorder	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	4	0	47	26	3	80
Illumina Laboratory Services, Illumina	0	0	20	4	7	31
Ambry Genetics	0	0	10	0	0	10
OMIM	5	0	0	0	0	5
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	4	5
CeGaT Center for Human Genetics Tuebingen	1	0	1	2	0	4
Fulgent Genetics, Fulgent Genetics	0	3	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	2	0	0	2
Blueprint Genetics	0	0	2	0	0	2
PreventionGenetics, part of Exact Sciences	0	0	0	1	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	1
Quest Diagnostics Nichols Institute San Juan Capistrano	1	0	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1
Genome-Nilou Lab	0	0	0	0	1	1

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