ClinVar Miner

Variants studied for Microcephaly, normal intelligence and immunodeficiency

Coded as:
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
85 72 500 159 32 1 813

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
NBN 83 66 480 149 27 1 770
NBN, OSGIN2 2 6 20 10 5 0 43

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 75 31 455 140 26 0 727
Counsyl 1 46 52 15 1 0 115
Illumina Clinical Services Laboratory,Illumina 0 0 24 10 10 0 44
Mendelics 2 0 26 2 0 0 30
GeneReviews 12 0 0 0 0 1 13
OMIM 9 0 0 0 0 0 9
Integrated Genetics/Laboratory Corporation of America 3 6 0 0 0 0 9
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Innovations Lab, Hyderabad,Tata Consultancy Services Ltd 3 0 0 0 0 0 3
Miami Human Genetics,University of Miami Miller School of Medicine 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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