ClinVar Miner

Variants in gene PIGG

Minimum submission review status: Collection method:
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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
20 9 194 93 21 327

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mental retardation, autosomal recessive 53 17 2 193 75 20 302
not provided 5 6 2 28 4 45
Hyperphosphatasia with mental retardation syndrome 1 1 0 0 0 0 1
Seizures 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 1 182 90 21 306
Baylor Genetics 4 0 20 0 0 24
GeneDx 5 2 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 3 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 4
OMIM 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 1 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1

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