Variants studied for Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

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
17	3	59	2	12	93

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SLC19A2	15	3	51	2	12	83
LOC129931894, SLC19A2	2	0	7	0	0	9
LOC120893165, SLC19A2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	1	0	53	1	12	67
OMIM	10	0	0	0	0	10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	2	1	4	7
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	4	0	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	1	2	0	0	3
Revvity Omics, Revvity	0	1	1	0	0	2
Breakthrough Genomics, Breakthrough Genomics	2	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	1

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