ClinVar Miner

Variants studied for Primary Microcephaly, Recessive

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 total
0 0 406 75 50 531

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination uncertain significance likely benign benign total
ASPM 124 18 13 155
CDK5RAP2 62 9 4 75
CEP152 46 12 3 61
MCPH1 41 12 8 61
KNL1 40 6 9 55
CENPJ 35 10 4 49
STIL 32 5 3 40
CENPJ, RNF17 22 3 6 31
WDR62 3 0 0 3
ANGPT2, MCPH1 1 0 0 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 406 75 50 531

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