ClinVar Miner

Variants studied for linear skin defects with multiple congenital anomalies

Included ClinVar conditions (5):
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
8 4 11 1 0 9 26

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 not provided total
HCCS 2 2 5 0 4 11
NDUFB11 2 2 4 0 2 8
COX7B 3 0 2 0 3 5
HCCS, HCCS-DT, LOC130067938 1 0 0 0 0 1
LOC130068460, MAGT1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
OMIM 8 0 0 0 0 8
GeneReviews 0 0 0 0 8 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 2
Breda Genetics srl 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
3billion 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1

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