ClinVar Miner

Variants studied for constitutional hemolytic anemia due to acanthocytosis

Included ClinVar conditions (3):
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 total
43 24 134 27 38 252

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MTTP 14 24 77 23 38 162
APOB 21 0 26 1 0 48
PCSK9 0 0 29 3 0 32
XK 8 0 0 0 0 8
APOB, APOB3'MAR 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 117 13 31 161
Natera, Inc. 1 2 17 7 8 35
OMIM 33 0 0 0 0 33
Myriad Women's Health, Inc. 0 17 0 0 0 17
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 4 2 7
Integrated Genetics/Laboratory Corporation of America 3 2 0 0 0 5
GeneReviews 5 0 0 0 0 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 5 0 0 0 0 5
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 4 0 5
Baylor Genetics 1 1 2 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 3 4
Counsyl 1 1 0 1 0 3
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 1
Pars Genome Lab 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.