Variants studied for Hereditary hemorrhagic telangiectasia

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)

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
421	77	351	450	89	2	1383

Gene and significance breakdown #

Total genes and gene combinations: 5

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ENG	285	37	255	298	64	1	938
ENG, LOC102723566	125	28	92	151	25	1	418
ACVRL1	9	12	4	1	0	0	25
AK1, DPM2, ENG, PIP5KL1, ST6GALNAC4, ST6GALNAC6	1	0	0	0	0	0	1
CCNH, RASA1	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	407	57	346	449	89	0	1348
Molecular Genetics, Royal Melbourne Hospital	11	7	5	0	0	0	23
Genetics, Medical University of Vienna	0	8	0	0	0	0	8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	3	0	0	0	0	5
Clinical Genetics Laboratory, Skane University Hospital Lund	3	1	0	0	0	0	4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	2	1	0	0	0	0	3
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
CSER _CC_NCGL, University of Washington	0	0	0	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	0	1
Department of Respiratory, Guangzhou Women and Children's Medical Center, Guangzhou Medical University	1	0	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.