ClinVar Miner

Variants studied for Citrullinemia

Coded as:
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
117 41 132 353 25 660

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ASS1 111 36 113 346 20 618
SLC25A13 6 5 18 4 3 36
ASS1, LOC110121061 0 0 0 3 0 3
ARSA 0 0 0 0 2 2
ABL1, ASS1, EXOSC2, FUBP3, PRDM12 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 109 28 113 349 20 619
Natera, Inc. 6 5 20 6 7 44
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 7 0 0 0 18
Institute of Human Genetics, University Hospital Muenster 0 3 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2

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