Variants studied for Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever

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
64	35	187	272	16	1	550

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MVK	64	35	186	272	14	1	547
MMAB, MVK	0	0	0	0	2	0	2
MMAB, MVK, UBE3B	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	61	16	158	268	16	0	519
Fulgent Genetics, Fulgent Genetics	14	22	60	10	0	0	106
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	0	2
GenomeConnect - CFC International	0	0	0	0	0	1	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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