ClinVar Miner

Variants studied for Lysinuric protein intolerance

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
95 88 218 346 23 4 707

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SLC7A7 87 81 209 332 22 4 670
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 84 12 174 336 16 0 622
Natera, Inc. 5 2 51 11 6 0 75
Fulgent Genetics, Fulgent Genetics 5 11 29 18 0 0 63
Illumina Laboratory Services, Illumina 0 0 42 8 11 0 61
Baylor Genetics 20 35 1 0 0 0 56
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 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

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