Variants studied for autosomal dominant limb-girdle muscular dystrophy type 1F

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
3	5	257	226	30	1	514

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TNPO3	3	5	245	214	29	1	489
LOC129999289, TNPO3	0	0	10	12	1	0	23
ATP6V1F, CALU, CCDC136, FLNC, IRF5, KCP, OPN1SW, TNPO3	0	0	1	0	0	0	1
ATP6V1F, FLNC, IRF5, KCP, TNPO3	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	0	2	223	226	29	0	480
Revvity Omics, Revvity	1	1	44	0	0	0	46
Baylor Genetics	0	0	3	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
OMIM	2	0	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Mendelics	0	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Department of Medical Genetics, University of Pecs	0	1	0	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	0	1

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