ClinVar Miner

Variants studied for Meckel syndrome, type 5

Included ClinVar conditions (2):
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
4 3 7 0 0 13

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
RPGRIP1L 4 3 7 13

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance total
Fulgent Genetics,Fulgent Genetics 1 1 7 9
OMIM 3 0 0 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 0 2

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