Variants in gene NHP2 - ClinVar Miner

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
0	0	86	61	8	146

Condition and significance breakdown #

Total conditions: 6

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Condition	uncertain significance	likely benign	benign	total
Dyskeratosis congenita	75	53	8	135
not provided	8	6	1	15
not specified	9	2	2	13
Dyskeratosis congenita, autosomal recessive 2	8	3	1	12
NHP2-related disorder	0	4	1	5
Dyskeratosis Congenita, Recessive	1	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	72	52	8	132
Genetic Services Laboratory, University of Chicago	9	2	1	12
GeneDx	4	5	1	10
Sema4, Sema4	3	2	2	7
Ambry Genetics	6	0	0	6
PreventionGenetics, part of Exact Sciences	0	4	2	6
Fulgent Genetics, Fulgent Genetics	5	0	0	5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	3	1	4
Breakthrough Genomics, Breakthrough Genomics	3	1	0	4
Mayo Clinic Laboratories, Mayo Clinic	2	0	0	2
CeGaT Center for Human Genetics Tuebingen	1	1	0	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	2	0	0	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	1	0	1
Illumina Laboratory Services, Illumina	1	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	1	0	1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini	1	0	0	1

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