ClinVar Miner

Variants in gene ABRAXAS1

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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 not provided total
1 2 483 248 38 1 727

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not specified 0 0 361 173 8 0 534
not provided 0 2 229 124 34 1 381
Hereditary cancer-predisposing syndrome 1 0 4 11 0 0 16
ABRAXAS1-related disorder 0 0 1 2 3 0 6
Hereditary breast ovarian cancer syndrome 0 0 6 0 0 0 6
Hereditary breast cancer, ABRAXAS1-related 0 0 1 0 0 0 1
Malignant tumor of breast 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 0 0 341 164 2 0 507
Labcorp Genetics (formerly Invitae), Labcorp 0 0 221 121 8 0 350
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 46 22 6 0 74
GeneDx 0 0 11 2 29 0 42
Breakthrough Genomics, Breakthrough Genomics 0 0 3 0 15 0 18
CeGaT Center for Human Genetics Tuebingen 0 2 1 8 1 0 12
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 9 0 0 10
PreventionGenetics, part of Exact Sciences 0 0 0 2 3 0 5
GeneKor MSA 1 0 2 1 0 0 4
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 4 0 0 0 4
Genomics Laboratory, Virgen de la Arrixaca University Clinical Hospital 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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