ClinVar Miner

Variants studied for CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia

Coded as:
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
7 1 14 0 0 1 23

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
CHD7 7 1 14 1 23

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Fulgent Genetics,Fulgent Genetics 4 1 8 0 13
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 7
Baylor Genetics 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 1 1

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