ClinVar Miner

Variants studied for Adams-Oliver syndrome 5

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 not provided total
32 14 588 361 102 2 1080

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH1 30 13 586 360 102 2 1074
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 1 0 1 0 0 0 2
MIR4673, NOTCH1 0 0 1 1 0 0 2
C9orf163, INPP5E, NOTCH1, SEC16A 0 1 0 0 0 0 1
LINC01451, LOC110121282, MIR4674, NALT1, NOTCH1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 2 565 355 99 0 1034
Centre of Medical Genetics, University of Antwerp 8 2 9 0 0 0 19
Fulgent Genetics,Fulgent Genetics 0 0 15 0 0 0 15
Mendelics 0 1 2 6 3 0 12
Molecular and Medical Genetics Group,King's College London 5 4 1 0 0 0 10
OMIM 8 0 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Baylor Genetics 0 1 4 0 0 0 5
University of British Columbia 0 3 0 0 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
ITMI 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1

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