Variants studied for Dyskeratosis congenita, autosomal dominant 2

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
11	12	166	14	14	215

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	total
TERT	11	8	156	13	14	201
LOC110806263, TERT	0	4	10	1	0	14

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	2	5	109	0	0	116
Illumina Laboratory Services, Illumina	0	0	44	13	13	70
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	13	0	0	13
Johns Hopkins Genomics, Johns Hopkins University	1	3	4	3	0	11
Neuberg Centre For Genomic Medicine, NCGM	1	0	4	0	0	5
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini	1	0	3	0	0	4
OMIM	3	0	0	0	0	3
Genetics and Molecular Pathology, SA Pathology	0	2	1	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Degerman lab, Umeå University	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	1	0	0	0	1
3billion, Medical Genetics	0	0	1	0	0	1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
Molecular Genetics, Sadra Medical Genetics Laboratory	1	0	0	0	0	1

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