Variants in gene MBL2 - 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	risk factor	not provided	total
3	0	96	25	9	1	1	114

Condition and significance breakdown #

Total conditions: 6

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Condition	pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
Mannose-binding lectin deficiency	3	76	13	2	0	1	90
not provided	0	12	19	8	0	0	32
not specified	0	16	3	3	0	0	22
MBL2-related disorder	0	4	3	0	0	0	7
Cystic fibrosis	0	0	0	0	1	0	1
See cases	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	uncertain significance	likely benign	benign	risk factor	not provided	total
Illumina Laboratory Services, Illumina	1	72	12	0	0	0	85
Breakthrough Genomics, Breakthrough Genomics	0	9	13	1	0	0	23
Ambry Genetics	0	16	2	0	0	0	18
CeGaT Center for Human Genetics Tuebingen	0	3	4	3	0	0	10
Labcorp Genetics (formerly Invitae), Labcorp	0	0	4	5	0	0	9
PreventionGenetics, part of Exact Sciences	0	4	3	0	0	0	7
Department of Pathology and Laboratory Medicine, Sinai Health System	0	3	0	2	0	0	5
OMIM	3	0	0	0	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	0	1	2	0	0	3
Baylor Genetics	0	1	0	0	0	0	1
GeneDx	0	0	0	1	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	1	0	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	0	1	0	0	1
ISCA site 1	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	1	0	0	0	1
Center for Computational Genomics and Data Science, University of Alabama	0	0	0	0	1	0	1
H3Africa Consortium	0	0	0	1	0	0	1

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