Variants from True Health Diagnostics

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	risk factor	total
23	5	142	373	45	1	589

Gene and significance breakdown #

Total genes and gene combinations: 29

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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	34	1	0	63
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	27	6	0	37
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
STK11	0	0	2	8	0	0	10
TP53	0	0	4	5	0	0	9
RAD51D, RAD51L3-RFFL	0	0	1	6	1	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
BAP1	1	0	0	1	0	0	2
CDK4, TSPAN31	0	0	1	1	0	0	2
PTEN	0	0	1	1	0	0	2

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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