ClinVar Miner

Variants studied for autosomal recessive limb-girdle muscular dystrophy type 2Q

Included ClinVar conditions (7):
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
63 14 2744 1846 256 13 4905

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PLEC 61 13 2729 1834 253 13 4872
LOC130001334, PLEC 1 0 12 11 3 0 27
ADCK5, BOP1, CCDC166, CPSF1, CYC1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, KIFC2, LY6D, LY6E, LY6H, LY6S, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, PYCR3, RECQL4, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 0 0 1 0 0 0 1
ADCK5, BOP1, CCDC166, CPSF1, CYC1, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GPAA1, GPIHBP1, GRINA, GSDMD, HGH1, HSF1, KIFC2, MAF1, MAFA, MAPK15, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PUF60, PYCR3, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 1 0 0 0 0 0 1
ADCK5, BOP1, CPSF1, CYC1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28, ZFTRAF1 0 0 1 0 0 0 1
LOC121331314, LOC130001337, LOC130001338, LOC130001339, LOC130001340, LOC130001341, LOC130001342, LOC130001343, LOC130001344, PLEC 0 1 0 0 0 0 1
LOC130001338, PLEC 0 0 0 1 0 0 1
MIR661, PLEC 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 62 11 2731 1830 248 0 4882
Fulgent Genetics, Fulgent Genetics 0 0 23 16 0 0 39
Genome-Nilou Lab 0 0 0 0 39 0 39
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 9 9
Baylor Genetics 0 0 8 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 6 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 5 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 2 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 1 0 3
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Ege University Pediatric Genetics, Ege University 0 0 2 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
OMIM 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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