ClinVar Miner

Variants in gene PITPNM3

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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
3 1 240 79 73 372

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 1 131 59 19 205
Cone-rod dystrophy 5 1 0 80 16 59 154
Cone-Rod Dystrophy, Dominant 0 0 26 4 3 33
not specified 0 0 0 3 16 19
Retinal dystrophy 0 0 5 0 0 5
Retinitis pigmentosa 0 0 2 1 0 3
Cerebral arteriovenous malformation 1 0 0 0 0 1
Cone dystrophy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 124 59 10 193
Illumina Clinical Services Laboratory,Illumina 0 0 103 20 62 185
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 9 2 8 19
GeneDx 0 0 2 1 9 12
PreventionGenetics, PreventionGenetics 0 0 0 0 12 12
Blueprint Genetics 0 0 5 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 0 2 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 1
Mendelics 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1

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