Variants in gene ADGRB2 - 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	1	190	109	42	339

Condition and significance breakdown #

Total conditions: 4

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Condition	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	94	104	42	240
not specified	0	115	6	0	121
Hereditary spastic paraplegia	0	1	0	0	1
Progressive spastic paraparesis	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	91	103	42	236
Ambry Genetics	0	115	6	0	121
Breakthrough Genomics, Breakthrough Genomics	0	1	1	16	18
CeGaT Center for Human Genetics Tuebingen	0	2	1	3	6
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.