ClinVar Miner

Variants studied for acrofacial dysostosis, Weyers type

Included ClinVar conditions (2):
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
123 43 89 408 99 759

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EVC2 70 18 42 214 63 406
EVC 51 25 47 191 33 346
EVC, EVC2 1 0 0 3 3 6
ADD1, ADRA2C, CYTL1, DOK7, EVC2, FAM193A, GRK4, HAUS3, HGFAC, HTT, LINC01587, LRPAP1, LYAR, MFSD10, MSANTD1, MSX1, MXD4, NOP14, NSG1, OTOP1, POLN, RGS12, RNF4, SH3BP2, STK32B, STX18, TMEM128, TNIP2, ZBTB49, ZFYVE28 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 119 39 76 405 97 736
Illumina Clinical Services Laboratory,Illumina 0 0 6 4 2 12
Fulgent Genetics,Fulgent Genetics 2 1 3 0 0 6
OMIM 4 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 2
Mendelics 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Kasturba Medical College, Manipal University 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 1 0 0 0 1

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