Variants in gene combination DNASE1L1, LOC130068869, TAFAZZIN

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	4	23	23	4	54

Condition and significance breakdown #

Total conditions: 8

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
3-Methylglutaconic aciduria type 2	2	4	20	18	1	43
Cardiovascular phenotype	0	0	5	5	0	10
not provided	1	0	4	3	3	10
not specified	0	0	1	5	0	6
Endocardial fibroelastosis	0	0	1	0	2	3
Left ventricular noncompaction cardiomyopathy	0	0	1	1	1	3
Primary dilated cardiomyopathy	0	0	1	1	0	2
Dilated cardiomyopathy 3B	0	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	1	0	19	17	0	37
GeneDx	0	0	3	4	3	10
Ambry Genetics	0	0	5	5	0	10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	1	3	0	4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	0	4	0	0	0	4
Illumina Laboratory Services, Illumina	0	0	1	1	2	3
OMIM	1	0	0	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	1	0	0	0	0	1
CeGaT Center for Human Genetics Tuebingen	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
Klaassen Lab, Charite University Medicine Berlin	0	0	1	0	0	1
Breakthrough Genomics, Breakthrough Genomics	0	0	0	1	0	1

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