ClinVar Miner

Variants studied for cleft lip/palate

Included ClinVar conditions (10):
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
13 3 150 55 20 227

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BMP4 6 2 127 50 13 184
SUMO1 1 0 12 2 0 15
IRF6 0 0 4 0 6 10
BMP4, LOC109433677 0 0 3 1 1 5
MSX1 3 0 1 0 0 4
CDH1 0 0 2 0 0 2
DLX4 1 0 0 1 0 2
LOC129992137, MSX1 1 0 0 1 0 2
AMOTL1 0 1 0 0 0 1
BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A 1 0 0 0 0 1
NDST1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 0 77 42 11 133
Fulgent Genetics, Fulgent Genetics 0 2 45 8 0 55
Illumina Laboratory Services, Illumina 0 0 34 7 3 44
Pharmacology and Genetics Laboratory, Bauru School of Dentistry, University of Sao Paulo 0 0 4 0 6 10
OMIM 9 0 0 0 0 9
University of Washington Center for Mendelian Genomics, University of Washington 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1

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