ClinVar Miner

Variants in gene combination ALG12, ZBED4

See also:
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
1 0 110 12 6 129

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic uncertain significance likely benign benign total
not specified 0 109 12 0 121
not provided 0 1 0 6 7
Short stature 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 109 12 0 121
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 6 6
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 5
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 1 0 0 1

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