ClinVar Miner

Variants studied for Singleton-Merten syndrome 1

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
3 4 203 60 30 1 292

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IFIH1 3 4 203 60 30 1 292

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 2 187 58 29 0 278
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 0 0 0 12
Mendelics 0 1 0 3 1 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 3 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 0 0 0 4
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
OMIM 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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