Variants studied for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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	total
1030	315	4196	2164	68	7773

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NF1	736	209	2776	1535	37	5293
LZTR1	264	104	1340	578	29	2315
LOC130067016, LZTR1	16	1	48	36	1	102
LOC111811965, MIR4733HG, NF1	13	1	31	15	0	60
EVI2A, NF1	1	0	0	0	1	2
LOC106113036, NF1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 1

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	1030	315	4196	2164	68	7773

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