ClinVar Miner

Variants studied for Orofacial cleft

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 2 18 1 0 21

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination likely pathogenic uncertain significance likely benign total
BMP4 0 12 0 12
LRP6 0 5 0 5
BAG2, BEND6, BMP5, COL21A1, DST, ELOVL5, FAM83B, GCLC, GFRAL, HCRTR2, HMGCLL1, KIAA1586, KILH, KLHL31, LINC00680, LINC01564, LINC03001, LOC101927189, LOC101927293, LOC113175007, LOC121132689, LOC121740652, LOC121740653, LOC123744825, LOC123744826, LOC123744827, LOC123744828, LOC123744829, LOC123744830, LOC123744831, LOC126088080, LOC126859694, LOC126859695, LOC126859696, LOC126859697, LOC126859698, LOC129389544, LOC129389545, LOC129996644, LOC129996645, LOC129996646, LOC129996647, LOC129996648, LOC129996649, LOC129996650, LOC129996651, LOC129996652, LOC129996653, LOC129996654, LOC129996655, LOC129996656, LOC129996657, LOC129996658, LOC129996659, LOC129996660, LOC129996661, LOC129996662, LOC129996663, LOC129996664, LOC129996665, LOC129996666, LOC129996667, LOC129996668, LOC129996669, LOC132089408, LOC132089409, LOC132089410, LOC132089411, LOC132089412, LOC132089413, LOC132090757, LRRC1, MIR548U, MIR5685, MLIP, MLIP-IT1, PRIM2, RAB23, TINAG, TRA-AGC12-3, TRA-AGC13-2, TRA-AGC16-1, TRA-AGC24-1, TRI-AAT1-1, TRM-CAT7-1, ZNF451 0 1 0 1
CDH1 0 0 1 1
FST 1 0 0 1
GDF11 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter likely pathogenic uncertain significance likely benign total
Illumina Laboratory Services, Illumina 0 12 0 12
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 5 0 5
University of Washington Center for Mendelian Genomics, University of Washington 2 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1
Craniofacial science Laboratory, School of Dental Sciences, universiti sains malaysia 0 1 0 1

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