Variants in gene combination CAST, ERAP1

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
3	0	16	9	27	54

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	uncertain significance	likely benign	benign	total
not provided	2	2	8	27	38
Inborn genetic diseases	0	15	0	0	15
CAST-related disorder	0	0	1	1	2
ERAP1-related disorder	0	0	0	1	1
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome	1	0	0	0	1
not specified	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
GeneDx	0	0	0	20	20
Labcorp Genetics (formerly Invitae), Labcorp	2	2	6	7	17
Ambry Genetics	0	15	0	0	15
PreventionGenetics, part of Exact Sciences	0	0	1	2	3
CeGaT Center for Human Genetics Tuebingen	0	0	2	0	2
OMIM	1	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	0	1	1

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