ClinVar Miner

Variants studied for pili torti-developmental delay-neurological abnormalities syndrome

Included ClinVar conditions (1):
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 total
2 2 1 0 3 8

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
HEPHL1 2 2 1 3 8

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 3 3
OMIM 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1

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