Variants in gene POMP - 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
4	1	65	48	10	126

Condition and significance breakdown #

Total conditions: 7

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	1	1	57	47	10	115
Inborn genetic diseases	0	0	14	2	0	16
POMP-related disorder	0	0	1	3	0	4
not specified	0	0	2	0	2	4
Proteasome-associated autoinflammatory syndrome 2	3	0	0	0	0	3
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	2	0	0	0	0	2
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome; Proteasome-associated autoinflammatory syndrome 2	0	0	1	1	0	2

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	1	0	57	46	6	110
Ambry Genetics	0	0	14	2	0	16
GeneDx	0	0	2	0	4	6
Breakthrough Genomics, Breakthrough Genomics	0	0	1	2	3	6
OMIM	4	0	0	0	0	4
PreventionGenetics, part of Exact Sciences	0	0	1	3	0	4
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	2
CeGaT Center for Human Genetics Tuebingen	0	1	0	1	0	2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	0	0	0	0	2	2
Baylor Genetics	1	0	0	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	1	0	0	1
Mendelics	0	0	1	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	1

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