ClinVar Miner

Variants studied for lysinuric protein intolerance

Included ClinVar conditions (1):
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
98 93 218 346 23 4 715

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC7A7 90 86 209 332 22 4 678
LOC130055323, SLC7A7 3 4 5 10 1 0 21
LOC130055324, SLC7A7 3 3 3 4 0 0 13
ACIN1, ADCY4, AJUBA, AP1G2, BCL2L2, BCL2L2-PABPN1, C14orf119, C14orf93, CARMIL3, CBLN3, CDH24, CEBPE, CHMP4A, CIDEB, CMA1, CMTM5, CPNE6, CTSG, DCAF11, DHRS1, DHRS2, DHRS4, DHRS4L1, DHRS4L2, EFS, EMC9, FITM1, GMPR2, GZMB, GZMH, HAUS4, HOMEZ, IL25, IPO4, IRF9, JPH4, KHNYN, LRP10, LTB4R, LTB4R2, MDP1, MIR208A, MIR208B, MMP14, MRPL52, MYH6, MYH7, NEDD8, NEDD8-MDP1, NFATC4, NGDN, NOP9, NRL, NYNRIN, PABPN1, PCK2, PPP1R3E, PRMT5, PSMB11, PSMB5, PSME1, PSME2, RABGGTA, RBM23, REC8, REM2, RIPK3, RNF212B, RNF31, SDR39U1, SLC22A17, SLC7A7, SLC7A8, TGM1, THTPA, TINF2, TM9SF1, TSSK4, ZFHX2 0 0 1 0 0 0 1
LOC130055319, LOC130055320, LOC130055321, LOC130055322, LOC130055323, LOC130055324, SLC7A7 1 0 0 0 0 0 1
OXA1L, SLC7A7 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 87 12 174 336 16 0 625
Natera, Inc. 5 2 51 11 6 0 75
Fulgent Genetics, Fulgent Genetics 5 11 29 18 0 0 63
Baylor Genetics 22 39 1 0 0 0 62
Illumina Laboratory Services, Illumina 0 0 42 8 11 0 61
Genome-Nilou Lab 7 0 13 9 13 0 42
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 40 0 0 0 0 40
OMIM 11 0 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 2 0 0 0 0 7
GeneReviews 0 0 0 0 0 4 4
Revvity Omics, Revvity 2 0 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
3billion 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.