ClinVar Miner

Variants studied for Nephronophthisis 4; Senior-Loken syndrome 4

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 not provided total
6 11 203 37 0 1 257

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
NPHP4 6 11 203 37 1 257

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Fulgent Genetics, Fulgent Genetics 6 10 203 37 0 256
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1

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