ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
110 20 661 1541 280 1 2437

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 not provided total
APOB 108 16 632 1486 267 1 2338
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: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 107 16 435 1539 280 0 2377
Fulgent Genetics, Fulgent Genetics 7 4 220 16 0 0 247
New York Genome Center 4 0 52 0 0 0 56
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

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