ClinVar Miner

Variants from True Health Diagnostics

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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 risk factor total
23 5 142 373 45 1 589

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
BRCA2 8 1 6 47 8 0 70
POLE 1 0 27 33 1 0 62
ATM 0 0 7 37 5 0 49
POLD1 0 0 17 29 1 0 47
APC 0 0 7 31 2 1 41
BRCA1 3 0 1 25 5 0 34
PMS2 3 0 5 17 5 0 30
PALB2 1 0 6 19 0 0 26
MSH6 1 1 7 11 3 0 23
MLH1 0 0 7 11 2 0 20
MSH2 0 0 8 9 3 0 20
CDH1 0 0 3 13 3 0 19
BRIP1 0 0 6 11 0 0 17
MUTYH 2 0 5 8 2 0 17
ATM, C11orf65 0 0 6 9 0 0 15
EPCAM 0 0 2 10 0 0 12
NBN 0 0 3 9 0 0 12
CHEK2 3 3 2 1 1 0 10
TP53 0 0 4 5 0 0 9
RAD51D, RAD51L3-RFFL 0 0 1 6 1 0 8
STK11 0 0 1 7 0 0 8
BMPR1A 0 0 1 6 0 0 7
RAD51C 0 0 2 5 0 0 7
CDKN2A 0 0 2 2 2 0 6
CDK4 0 0 1 3 0 0 4
SMAD4 0 0 2 2 0 0 4
BRCA1, LOC126862571 0 0 0 2 1 0 3
BAP1 1 0 0 1 0 0 2
CDK4, TSPAN31 0 0 1 1 0 0 2
LOC130062899, STK11 0 0 1 1 0 0 2
PTEN 0 0 1 1 0 0 2
LOC130009266, POLE 0 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 1
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Hereditary cancer-predisposing syndrome 23 5 142 373 45 1 589

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