ClinVar Miner

Variants studied for Pitt-Hopkins-like syndrome 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
32 4 430 103 66 2 609

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CNTNAP2 26 4 429 103 66 2 602
C7orf33, CNTNAP2, CUL1, EZH2 2 0 1 0 0 0 3
CNTNAP2, MIR548F4 3 0 0 0 0 0 3
CNTNAP2, TPK1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 1 275 84 26 0 407
Illumina Clinical Services Laboratory,Illumina 0 0 178 21 49 0 248
OMIM 10 0 0 0 0 0 10
Athena Diagnostics Inc 0 0 0 0 7 0 7
Mendelics 1 0 0 0 2 0 3
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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