ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

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 total
264 79 426 132 46 906

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PTEN 258 79 418 124 42 881
KLLN, PTEN 4 0 7 8 4 22
ACTA2, ANKRD22, KLLN, LIPF, LIPJ, LIPK, LIPM, LIPN, PTEN, RNLS, STAMBPL1 1 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, MINPP1, MIR4678, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, MINPP1, PAPSS2, PTEN, RNLS 1 0 0 0 0 1
KLLN 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 216 38 297 97 14 662
ClinGen PTEN Variant Curation Expert Panel 38 37 41 19 9 144
Illumina Clinical Services Laboratory,Illumina 0 0 96 11 23 130
Mendelics 3 7 18 12 7 47
Herman Laboratory,Nationwide Children's Hospital 33 0 0 0 0 33
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 3 0 0 0 7
Medical Molecular Genetics,University of Birmingham 3 0 0 0 0 3
University Health Network,Princess Margaret Cancer Centre 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
King Laboratory,University of Washington 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 1

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