Variants in gene ANO1 - 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	83	23	6	113

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not specified	0	0	80	5	0	85
not provided	0	0	4	18	6	26
Moyamoya disease 7	3	0	0	0	0	3
ANO1-related fatal neonatal disease due to impaired chloride currents	0	1	0	0	0	1
Intestinal dysmotility syndrome	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Ambry Genetics	0	0	79	5	0	84
CeGaT Center for Human Genetics Tuebingen	0	0	3	16	0	19
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	4	6	10
Breakthrough Genomics, Breakthrough Genomics	0	0	1	2	3	6
OMIM	4	0	0	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	1	0	0	1
3billion	0	1	0	0	0	1

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