Variants studied for X-linked sideroblastic anemia 1

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
16	4	31	9	17	76

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ALAS2	15	3	12	4	13	46
SLC25A38	0	0	13	4	1	18
ALAS2, LOC108663984	0	0	4	0	2	6
ALAS2, LOC108663984, PAGE2B	0	1	1	1	0	3
ALAS2, APEX2	0	0	0	0	1	1
ALAS2, PAGE2B	1	0	0	0	0	1
LOC129936510, SLC25A38	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	0	0	26	8	16	50
OMIM	14	0	0	0	0	14
Mendelics	0	0	1	1	1	3
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano	0	2	0	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Daryl Scott Lab, Baylor College of Medicine	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Molecular Pathology Laboratory, Viapath at King's College Hospital	1	0	0	0	0	1

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