Variants in gene RPS28 - 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
1	0	3	20	7	31

Condition and significance breakdown #

Total conditions: 3

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Condition	pathogenic	uncertain significance	likely benign	benign	total
not provided	0	3	20	7	30
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	1	0	0	1	2
RPS28-related disorder	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	3	18	1	22
GeneDx	0	0	1	6	7
Breakthrough Genomics, Breakthrough Genomics	0	0	0	6	6
OMIM	1	0	0	0	1
PreventionGenetics, part of Exact Sciences	0	0	1	0	1
University of Washington Center for Mendelian Genomics, University of Washington	1	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	1	0	1
Institute of Human Genetics, University Hospital Muenster	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1

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