ClinVar Miner

Variants studied for sideroblastic anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 not provided total
164 49 413 209 82 4 872

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRNT1 67 11 248 144 16 1 478
SLC25A38 48 5 40 13 11 1 106
PUS1 5 16 47 19 13 0 89
ALAS2 15 4 13 4 13 0 48
YARS2 7 4 26 4 8 0 45
ABCB7 5 2 11 2 6 2 26
DNM1L, YARS2 0 0 5 17 7 0 22
ALAS2, LOC108663984 0 1 6 0 2 0 9
LOC130009240, PUS1 1 3 2 2 1 0 9
LOC132090059, PUS1 1 2 3 2 3 0 8
GLRX5 5 0 2 0 0 0 7
HSCB 2 0 3 0 0 0 5
ALAS2, LOC108663984, PAGE2B 1 1 1 1 0 0 4
LOC129936510, SLC25A38 0 0 4 0 0 0 4
HSPA9 2 0 0 1 0 0 3
ABCB7, LOC130068449 0 0 1 0 1 0 2
MT-CO1 2 0 0 0 0 0 2
ALAS2, APEX2 0 0 0 0 1 0 1
ALAS2, PAGE2B 1 0 0 0 0 0 1
ARSA 0 0 1 0 0 0 1
MT-ATP6 1 0 0 0 0 0 1
STEAP3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 62 5 245 144 15 0 471
Illumina Laboratory Services, Illumina 1 2 125 49 45 0 204
OMIM 51 0 0 0 0 0 51
Mark Fleming Laboratory, Boston Children's Hospital 47 0 0 0 0 0 47
Natera, Inc. 0 1 15 12 11 0 39
Baylor Genetics 4 19 6 0 0 0 29
Genome-Nilou Lab 0 0 0 0 21 0 21
Fulgent Genetics, Fulgent Genetics 0 3 7 6 0 0 16
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 4 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 0 4 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Mendelics 0 0 1 1 2 0 4
GeneReviews 2 0 0 0 0 2 4
3billion 2 2 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 0 2 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Molecular Pathology Laboratory, Viapath at King's College Hospital 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1

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