ClinVar Miner

Variants in gene PPP2CA

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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
17 24 63 102 10 207

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 8 5 52 100 10 174
Houge-Janssens syndrome 3 11 16 8 0 1 31
PPP2CA-related disorder 0 3 1 3 0 7
not specified 0 0 2 1 0 3
Inborn genetic diseases 0 1 1 0 0 2
Prostate cancer 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 7 3 33 99 9 151
GeneDx 1 0 19 0 1 21
SIB Swiss Institute of Bioinformatics 1 10 1 0 0 12
CeGaT Center for Human Genetics Tuebingen 1 1 1 6 0 9
PreventionGenetics, part of Exact Sciences 0 3 1 3 0 7
OMIM 6 0 0 0 0 6
Baylor Genetics 0 2 1 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 2
Ambry Genetics 0 1 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
New York Genome Center 0 0 2 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Prostate Cancer Research Center, Institute of Biosciences and Medical Technology, University of Tampere 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
3billion 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 1 0 1

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