ClinVar Miner

Variants studied for Fanconi anemia complementation group j

Included ClinVar conditions (4):
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
128 76 854 90 12 1141

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRIP1 127 75 849 90 12 1134
BRIP1, LOC110120932 1 1 5 0 0 7

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 125 44 823 55 0 1047
Counsyl 8 33 103 34 11 189
Mendelics 3 5 57 0 0 65
Fulgent Genetics,Fulgent Genetics 5 0 17 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 3 4 11
OMIM 2 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 2
Pathway Genomics 0 0 2 0 0 2
IntelligeneCG 0 0 0 0 1 1

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