Variants studied for Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

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
14	4	210	141	35	394

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
DNAJB6	14	4	210	141	35	394

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	8	3	157	140	15	323
Illumina Laboratory Services, Illumina	0	0	34	1	23	58
Revvity Omics, Revvity	5	0	39	0	0	44
OMIM	10	0	0	0	0	10
Mendelics	1	0	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	0	0	1
Centogene AG - the Rare Disease Company	0	0	1	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	1	0	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	1
Department of Medical Genetics, University of Pecs	0	1	0	0	0	1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Dr.Nikuei Genetic Center	0	0	0	1	0	1

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