ClinVar Miner

Variants studied for hemorrhage, intracerebral, susceptibility to

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 total
8 64 446 108 3 6 633

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
ACE 5 24 242 26 1 1 298
COL4A1 2 36 179 71 2 2 292
COL4A2 0 1 16 6 0 3 25
COL4A1, LOC126861856 0 2 5 2 0 0 9
ACE, LOC130061383 0 1 1 3 0 0 5
PLOD3 0 0 3 0 0 0 3
KAT6B 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Fulgent Genetics, Fulgent Genetics 6 63 431 107 3 0 610
OMIM 0 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 4 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 3 0 0 0 3
Neurovascular Genetics Laboratory, Assistance Publique - Hôpitaux de Paris 0 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 1

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