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
140 92 858 189 44 2 1272

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NBN 138 86 818 184 31 2 1206
NBN, OSGIN2 2 6 39 5 13 0 65
DECR1, NBN 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
Invitae 130 53 793 168 29 0 1173
Counsyl 1 46 52 15 1 0 115
Illumina Clinical Services Laboratory,Illumina 0 0 61 7 27 0 95
Mendelics 2 3 32 12 1 0 50
Integrated Genetics/Laboratory Corporation of America 5 8 0 0 0 0 13
GeneReviews 12 0 0 0 0 1 13
OMIM 9 0 0 0 0 0 9
Baylor Genetics 2 1 0 0 0 0 3
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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