ClinVar Miner

Variants studied for AVSD 1

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 association total
2 2 2 0 0 1 7

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance association total
SMARCAL1 2 0 0 0 2
CHD7 0 0 1 0 1
ELN 0 0 1 0 1
FOXP1 0 0 0 1 1
NR1D2 0 1 0 0 1
TBX5 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance association total
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 2
Garg Lab, Nationwide Children's Hospital 0 0 0 1 1
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 0 1
Human Genetics and Genome Research Division,National Research Centre 0 1 0 0 1

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