Variants studied for Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

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
5	3	27	9	7	1	49

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
COQ9	4	3	23	9	7	1	44
COQ9, LOC112469007	1	0	4	0	0	0	5

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	25	7	6	0	38
Revvity Omics, Revvity	1	2	1	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	0	1	3	0	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	3	0	3
OMIM	2	0	0	0	0	0	2
Baylor Genetics	0	0	2	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	0	0	0	0	0	2
GeneReviews	1	0	0	0	0	1	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	0	0	0	0	0	1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	1	0	0	0	0	0	1

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