ClinVar Miner

Variants studied for Hoyeraal-Hreidarsson syndrome

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
4 1 169 41 13 226

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 total
ACD 2 1 109 27 10 147
DCLRE1B 0 0 60 14 3 77
DKC1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 167 41 13 221
GeneReviews 4 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Mendelics 0 1 0 0 0 1

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