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)

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
1409	446	5166	2572	71	9664

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NF1	1003	299	3407	1823	39	6571
LZTR1	369	145	1669	680	30	2893
LOC130067016, LZTR1	21	1	56	51	1	130
LOC111811965, MIR4733HG, NF1	14	1	33	17	0	65
EVI2A, NF1	1	0	0	0	1	2
LOC106113036, NF1	0	0	1	0	0	1
LZTR1, THAP7	1	0	0	0	0	1
NF1, OMG	0	0	0	1	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	1409	446	5166	2572	71	9664

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