ClinVar Miner

Variants in gene RRP8

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 association total
0 0 49 4 3 1 57

Condition and significance breakdown #

Total conditions: 3
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Condition uncertain significance likely benign benign association total
not specified 49 2 0 0 51
not provided 0 2 3 0 5
Autism spectrum disorder 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter uncertain significance likely benign benign association total
Ambry Genetics 49 2 0 0 51
Labcorp Genetics (formerly Invitae), Labcorp 0 1 3 0 4
Breakthrough Genomics, Breakthrough Genomics 0 0 2 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 1

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