ClinVar Miner

Variants studied for primitive neuroectodermal tumor

Included ClinVar conditions (8):
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 protective risk factor other not provided total
24 38 2855 1488 177 1 6 9 9 4538

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor other not provided total
ALK 19 10 2621 1439 97 0 4 0 8 4131
KIF1B 0 1 126 36 55 0 0 0 0 218
PHOX2B 3 2 79 5 21 0 2 0 0 111
LOC110011216, PHOX2B 2 1 10 4 2 0 0 0 0 18
TP53 0 7 0 0 0 0 0 0 0 7
PTPN11 0 6 0 0 0 0 0 0 0 6
ALK, CLIP4, PCARE, TOGARAM2, WDR43 0 0 3 0 0 0 0 0 0 3
FGFR1 0 3 0 0 0 0 0 0 0 3
KIF1B, LOC129388447 0 0 2 1 0 0 0 0 0 3
MYC 0 3 0 0 0 0 0 0 0 3
PIK3CA 0 3 0 0 0 0 0 0 0 3
ALK, LOC105374389, LOC122756683, LOC122756684 0 0 2 0 0 0 0 0 0 2
ALK, LOC122756683 0 0 2 0 0 0 0 0 0 2
BRCA2 0 0 1 0 0 0 0 1 0 2
KIF1B, LOC126805614 0 0 1 0 1 0 0 0 0 2
KIF1B, LOC129929363 0 0 0 1 1 0 0 0 0 2
TSC1 0 0 2 0 0 0 0 0 0 2
FANCA 0 0 1 0 0 0 0 0 0 1
FANCA, ZNF276 0 0 1 0 0 0 0 0 0 1
FGFR3 0 0 0 0 0 0 0 1 0 1
KIF1B, LOC129388446 0 0 0 1 0 0 0 0 0 1
KIF1B, LOC129929365 0 0 1 0 0 0 0 0 0 1
LMO1 0 0 0 0 0 1 0 0 0 1
LOC112577475, RBM15 0 0 0 0 0 0 0 1 0 1
LOC130002133, PTCH1 0 0 1 0 0 0 0 0 0 1
MAP2K4 0 0 0 0 0 0 0 1 0 1
MAP2K7 0 0 0 0 0 0 0 1 0 1
MEN1 0 0 1 0 0 0 0 0 0 1
MET 0 0 0 0 0 0 0 1 0 1
MYCN, MYCNOS 0 1 0 0 0 0 0 0 0 1
NRAS 0 0 0 0 0 0 0 0 1 1
NTRK2 0 0 0 0 0 0 0 1 0 1
PHF6 0 0 0 0 0 0 0 1 0 1
PINK1 0 0 1 0 0 0 0 0 0 1
SDHC 0 0 0 1 0 0 0 0 0 1
SMARCA4 0 1 0 0 0 0 0 0 0 1
TSC2 0 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign protective risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 2520 1411 85 0 0 0 0 4018
Illumina Laboratory Services, Illumina 0 0 233 81 128 0 0 0 0 442
Baylor Genetics 1 2 405 0 0 0 0 0 0 408
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 9 49 0 0 0 0 58
Database of Curated Mutations (DoCM) 12 32 0 0 0 0 0 0 1 45
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 5 21 0 0 0 0 29
Fulgent Genetics, Fulgent Genetics 1 0 21 7 0 0 0 0 0 29
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 27 0 0 0 0 0 0 28
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 12 1 1 0 0 0 0 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 11 0 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 9 0 0 0 0 11
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 0 9 0 9
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 6 0 0 0 0 8
OMIM 0 0 0 0 0 0 6 0 0 6
GeneReviews 0 0 0 0 0 0 0 0 6 6
Mendelics 0 0 2 3 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 1 0 0 0 0 0 0 0 4
Department of Pathology and Genetics, University of Gothenburg 1 0 2 0 0 0 0 0 0 3
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 1 1 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 2 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 0 0 0 1

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