ClinVar Miner

Variants studied for Hereditary hemorrhagic telangiectasia

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
222 37 271 189 43 1 762

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENG 153 22 197 132 30 0 534
ENG, LOC102723566 67 15 74 56 13 1 225
ACVRL1 0 0 0 1 0 0 1
AK1, DPM2, ENG, PIP5KL1, ST6GALNAC4, ST6GALNAC6 1 0 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 221 36 271 188 43 0 759
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 1 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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