ClinVar Miner

Variants in gene PNPLA6

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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
22 6 98 42 36 182

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic paraplegia 39 10 2 34 13 16 74
not specified 0 0 5 30 19 49
not provided 1 3 25 3 12 42
Spastic Paraplegia, Recessive 0 0 34 5 1 40
Boucher Neuhauser syndrome 8 0 0 0 0 8
Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina 4 0 0 0 0 4
Boucher Neuhauser syndrome; Laurence-Moon syndrome; Spastic paraplegia 39; Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina 0 0 2 0 0 2
Dysarthria; Cerebellar atrophy; Gait ataxia 0 0 2 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia; Cerebellar ataxia; Dysarthria 0 2 0 0 0 2
Laurence-Moon syndrome 2 0 0 0 0 2
PNPLA6-related disorders 1 0 0 0 0 1
Peripheral neuropathy 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 6 2 32 12 16 68
GeneDx 1 2 6 26 25 60
Illumina Clinical Services Laboratory,Illumina 1 0 36 5 1 43
Athena Diagnostics Inc 0 0 10 2 6 18
OMIM 16 0 0 0 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 3 7
Gharavi Laboratory,Columbia University 0 0 6 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 2 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 3
GeneReviews 2 0 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Claritas Genomics 0 0 1 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
State Key Lab of Medical Genetics, Central South University 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 1

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