ClinVar Miner

Variants in gene FHIT

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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 association total
1 0 29 15 4 1 50

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic uncertain significance likely benign benign association total
not specified 0 17 1 0 0 18
not provided 0 6 6 1 0 13
See cases 0 2 4 2 0 8
Familial ovarian cancer 0 3 0 0 0 3
FHIT-related disorder 0 0 2 0 0 2
Hereditary breast ovarian cancer syndrome 1 0 1 0 0 2
Familial cancer of breast 0 1 0 0 0 1
Lip and oral cavity carcinoma 0 0 0 0 1 1
Premature ovarian failure 0 0 0 1 0 1
Primary amenorrhea 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic uncertain significance likely benign benign association total
Ambry Genetics 0 17 1 0 0 18
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 4 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 1 4 1 0 0 6
ISCA Site 6 0 1 2 1 0 4
Labcorp Genetics (formerly Invitae), Labcorp 0 0 2 1 0 3
Bionano Laboratories 0 3 0 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 2 0 0 2
GeneDx 0 0 0 1 0 1
ISCA site 1 0 1 0 0 0 1
ISCA site 4 0 0 1 0 0 1
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 0 0 0 1 0 1
Department of Biological Science, Sunandan Divatia School of Science, NMIMS University 0 0 0 0 1 1
Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington 0 0 1 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano 0 0 1 0 0 1

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