ClinVar Miner

Variants studied for Familial cancer of breast; Ataxia-telangiectasia syndrome

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
123 112 271 34 5 21 554

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATM 73 69 174 22 4 11 347
ATM, C11orf65 50 43 97 12 1 10 207

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 101 90 254 10 4 0 459
Department of Pathology and Laboratory Medicine, Sinai Health System 13 9 10 23 1 0 56
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 21 21
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 11 3 1 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 3 8 1 0 0 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 9 1 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 1

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