ClinVar Miner

Variants studied for PTEN hamartoma tumor syndrome

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 total
189 67 296 86 20 633

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 total
PTEN 185 67 291 83 16 618
KLLN, PTEN 3 0 4 3 4 13
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
KLLN 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 146 30 197 31 6 410
ClinGen PTEN Variant Curation Expert Panel 28 30 31 15 7 111
Illumina Clinical Services Laboratory,Illumina 0 0 71 32 3 106
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
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 1
Division of Genomic Diagnostics,The 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

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