ClinVar Miner

Variants in gene USP19

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
2 0 128 14 3 147

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic uncertain significance likely benign benign total
not specified 0 127 10 0 137
not provided 0 1 3 3 7
Epileptic encephalopathy 2 0 0 0 2
Long QT syndrome 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 127 10 0 137
Labcorp Genetics (formerly Invitae), Labcorp 0 0 3 3 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 0 0 1 0 1

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