Variants in gene ACER3 - 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
7	1	45	28	12	90

Condition and significance breakdown #

Total conditions: 5

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	0	32	27	12	71
Alkaline ceramidase 3 deficiency	6	1	3	0	0	10
not specified	0	0	10	0	0	10
ACER3-related disorder	1	0	0	2	3	6
Neuromuscular disease	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	0	31	27	11	69
Ambry Genetics	0	0	9	0	0	9
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	6	7
PreventionGenetics, part of Exact Sciences	1	0	0	2	3	6
GeneDx	0	0	2	0	2	4
Medical Genetics Laboratory, Tarbiat Modares University	1	0	2	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	1	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	2	0	0	2
OMIM	1	0	0	0	0	1
Baylor Genetics	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	0	1	0	1
Suma Genomics	0	0	1	0	0	1
Palindrome, Gene Kavoshgaran Aria	1	0	0	0	0	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	1	0	0	0	0	1

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