ClinVar Miner

Variants studied for holoprosencephaly 7

Included ClinVar conditions (4):
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
9 3 140 47 56 2 248

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTCH1 6 2 115 36 49 2 202
LOC100507346, PTCH1 3 0 17 10 6 0 35
LOC130002133, PTCH1 0 0 7 1 1 0 9
DISP1 0 0 1 0 0 0 1
LOC130002132, PTCH1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 87 40 55 0 182
Fulgent Genetics, Fulgent Genetics 0 0 44 9 1 0 54
OMIM 5 0 0 0 0 0 5
New York Genome Center 0 0 4 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1

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