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)
		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	not provided	total
331	60	305	381	86	1	1160

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
ENG	224	31	222	258	63	0	797
ENG, LOC102723566	102	22	80	122	23	1	347
ACVRL1	3	7	3	1	0	0	14
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: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	324	49	301	380	86	0	1140
Molecular Genetics, Royal Melbourne Hospital	8	7	4	0	0	0	19
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	3	0	0	0	0	5
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	2	1	0	0	0	0	3
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	0	1
CSER _CC_NCGL, University of Washington	0	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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