ClinVar Miner

Variants studied for SAMHD1-related type 1 interferonopathy

Included ClinVar conditions (3):
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
99 35 300 395 30 19 830

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 not provided total
SAMHD1 95 35 270 372 18 19 764
SAMHD1, TLDC2 1 0 29 20 11 0 58
LOC130065805, SAMHD1 3 0 0 3 1 0 7
BLCAP, CTNNBL1, GHRH, MANBAL, MROH8, NNAT, RBL1, RPN2, SAMHD1, SRC 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 91 28 265 391 8 0 783
Illumina Laboratory Services, Illumina 1 1 37 8 20 0 50
GeneReviews 3 0 0 0 0 18 21
OMIM 11 0 0 0 0 0 11
Fulgent Genetics, Fulgent Genetics 1 3 2 1 0 0 7
Baylor Genetics 2 0 1 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Mendelics 0 0 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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