Variants in gene APAF1 - ClinVar Miner

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
0	0	74	18	12	101

Condition and significance breakdown #

Total conditions: 6

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Condition	uncertain significance	likely benign	benign	total
not specified	71	2	0	73
APAF1-related disorder	0	13	8	21
not provided	0	5	7	12
Inborn genetic diseases	2	0	0	2
EBV-positive nodal T- and NK-cell lymphoma	0	1	0	1
Neural tube defect	1	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	uncertain significance	likely benign	benign	total
Ambry Genetics	73	2	0	75
PreventionGenetics, part of Exact Sciences	0	13	8	21
Labcorp Genetics (formerly Invitae), Labcorp	0	4	5	9
Breakthrough Genomics, Breakthrough Genomics	0	1	4	5
CeGaT Center for Human Genetics Tuebingen	0	1	2	3
Laboratorio di Genetica e Neuroscienze, Istituto Giannina Gaslini	1	0	0	1
Department of Clinical Pathology, School of Medicine, Fujita Health University	0	1	0	1

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