ClinVar Miner

Variants studied for Mucolipidosis type IV

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
71 52 151 559 28 8 787

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MCOLN1 67 50 145 543 25 8 761
LOC130063376, MCOLN1 3 2 4 9 1 0 16
MCOLN1, PNPLA6 0 0 1 7 2 0 8
ADAMTS10, ANGPTL4, CAMSAP3, CCL25, CD209, CD320, CERS4, CLEC4G, CLEC4M, CTXN1, ELAVL1, EVI5L, FBN3, FCER2, HNRNPM, KANK3, LRRC8E, MAP2K7, MARCHF2, MCEMP1, MCOLN1, MYO1F, NDUFA7, PCP2, PET100, PNPLA6, PRAM1, RAB11B, RETN, RPS28, SNAPC2, STXBP2, TGFBR3L, TIMM44, TRAPPC5, XAB2, ZNF414 0 0 1 0 0 0 1
ADGRE1, ALKBH7, ARHGEF18, C3, CAMSAP3, CCL25, CD209, CD70, CLEC4G, CLEC4M, CLPP, CRB3, CTXN1, DENND1C, ELAVL1, EVI5L, FBN3, FCER2, GPR108, GTF2F1, INSR, KHSRP, LRRC8E, MAP2K7, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MCEMP1, MCOLN1, PCP2, PET100, PEX11G, PNPLA6, PSPN, RETN, SAXO5, SH2D3A, SLC25A23, SLC25A41, SNAPC2, STXBP2, TGFBR3L, TIMM44, TNFSF14, TNFSF9, TRAPPC5, TRIP10, TUBB4A, VAV1, XAB2, ZNF358, ZNF557 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 59 13 72 541 18 0 703
Natera, Inc. 9 7 19 45 10 0 90
Illumina Laboratory Services, Illumina 1 1 55 8 5 0 70
Counsyl 1 20 6 1 0 0 28
Genome-Nilou Lab 0 0 6 6 8 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 3 0 0 0 0 13
Myriad Genetics, Inc. 1 11 0 0 0 0 12
OMIM 10 0 0 0 0 0 10
Baylor Genetics 4 5 1 0 0 0 10
GeneReviews 2 0 0 0 0 8 10
Fulgent Genetics, Fulgent Genetics 4 1 0 1 0 0 6
Revvity Omics, Revvity 1 1 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Department of Biochemistry, Faculty of Medicine, University of Khartoum 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 1
Suma Genomics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Pediatric Genetics, Postgraduate Institute of Medical Education and Research, Chandigarh (PGIMER) 0 1 0 0 0 0 1

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