ClinVar Miner

Variants studied for Nephronophthisis

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
390 107 1949 2063 218 19 4736

Gene and significance breakdown #

Total genes and gene combinations: 42
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPHP4 80 29 679 631 76 2 1493
NPHP3, NPHP3-ACAD11 81 20 397 367 41 2 906
INVS 91 17 317 429 27 4 883
NPHP1 74 18 267 373 25 1 758
IQCB1 40 11 181 150 22 1 403
GLIS2 0 0 43 68 21 2 134
LOC129937586, NPHP3, NPHP3-ACAD11 4 0 38 36 3 0 81
LOC126806306, NPHP1 6 1 6 8 1 0 22
NPHP3 3 0 2 0 0 0 5
CPLANE1 0 1 3 0 0 0 4
TMEM67 0 0 0 0 0 4 4
ADAMTS9 0 2 1 0 0 0 3
CEP290 0 2 0 0 0 1 3
MALL, NPHP1 1 0 1 0 1 0 3
AHI1 2 0 0 0 0 0 2
CC2D2A, FBXL5 0 0 2 0 0 0 2
IFT172 0 0 2 0 0 0 2
MKKS 2 0 0 0 0 0 2
RMND1 2 0 0 0 0 0 2
TTC21B 0 2 0 0 0 0 2
ACAD11, ACKR4, DNAJC13, NPHP3, UBA5 0 0 1 0 0 0 1
AJAP1, NPHP4 0 0 1 0 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 1 0 0 0 0 0 1
BFSP2, NPHP3, TMEM108, UBA5 1 0 0 0 0 0 1
CEP164 0 0 1 0 0 0 1
CEP83 0 0 0 0 0 1 1
EVC 0 0 1 0 0 0 1
FAM186B 0 1 0 0 0 0 1
GOLGB1, IQCB1 1 0 0 0 0 0 1
IFT140 0 0 1 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
INCENP 0 1 0 0 0 0 1
INVS, LOC130002251 0 0 0 0 1 0 1
KAT6B 0 0 1 0 0 0 1
KCNAB2, NPHP4 0 0 1 0 0 0 1
KIF7 0 0 0 1 0 0 1
NIPBL 0 0 1 0 0 0 1
NPHP3, UBA5 0 0 1 0 0 0 1
PIAS1 0 1 0 0 0 0 1
RBM48 0 1 0 0 0 0 1
RPGRIP1L 0 0 0 0 0 1 1
SRGAP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 382 89 1932 2062 218 0 4683
Sydney Genome Diagnostics, Children's Hospital Westmead 14 9 15 1 0 0 39
GeneReviews 1 0 0 0 0 18 19
Yale Center for Mendelian Genomics, Yale University 0 8 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.