Variants from ClinGen Myeloid Malignancy Variant Curation Expert Panel

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
119	108	795	486	112	1620

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
RUNX1	117	107	795	486	107	1612
LOC130066607, RUNX1	0	1	0	0	2	3
LOC130066606, RUNX1	0	0	0	0	2	2
intergenic	1	0	0	0	0	1
CLIC6, KCNE1, KCNE2, MRPS6, RCAN1, RUNX1, SLC5A3, SMIM11	1	0	0	0	0	1
LOC130066597, RUNX1	0	0	0	0	1	1

Condition and significance breakdown #

Total conditions: 2

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	113	101	759	464	98	1535
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	6	7	36	22	14	85

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