ClinVar Miner

Variants in gene IVNS1ABP

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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 total
3 0 28 8 1 39

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance likely benign benign total
not specified 0 18 0 0 18
IVNS1ABP-related disorder 0 6 4 0 10
Immunodeficiency 70 3 4 0 0 7
not provided 0 1 4 1 6

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 18 0 0 18
PreventionGenetics, part of Exact Sciences 0 6 4 0 10
CeGaT Center for Human Genetics Tuebingen 0 1 4 0 5
OMIM 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 1
New York Genome Center 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 1

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