ClinVar Miner

Variants studied for Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1

Coded as:
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
111 23 661 1541 280 1 2441

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
APOB 109 19 632 1486 267 1 2342
APOB, LOC106560211 1 4 21 44 10 0 78
APOB, APOB3'MAR 1 0 8 11 3 0 21

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 108 16 435 1539 280 0 2378
Fulgent Genetics, Fulgent Genetics 7 4 220 16 0 0 247
New York Genome Center 4 0 52 0 0 0 56
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 0 0 0 0 4
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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.