Variants in gene PON1 - 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	not provided	total
0	0	18	7	30	3	56

Condition and significance breakdown #

Total conditions: 5

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Condition	uncertain significance	likely benign	benign	not provided	total
not provided	2	4	30	1	37
not specified	15	1	0	0	16
PON1-related disorder	0	2	2	0	4
Enzyme activity finding	0	0	0	2	2
Amyotrophic lateral sclerosis	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	uncertain significance	likely benign	benign	not provided	total
GeneDx	0	0	29	0	29
Ambry Genetics	15	1	0	0	16
Breakthrough Genomics, Breakthrough Genomics	0	0	10	0	10
PreventionGenetics, part of Exact Sciences	0	2	2	0	4
Labcorp Genetics (formerly Invitae), Labcorp	0	2	1	0	3
OMIM	0	0	0	2	2
CeGaT Center for Human Genetics Tuebingen	0	2	0	0	2
Functional Genomics, Thrombosis Research Institute, India	0	0	0	1	1
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	0	0	1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	1	0	0	0	1
AiLife Diagnostics, AiLife Diagnostics	1	0	0	0	1

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