ClinVar Miner

Variants studied for Larsen-like syndrome, B3GAT3 type

Included ClinVar conditions (2):
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 total
22 15 100 114 6 252

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 total
B3GAT3 22 13 98 112 6 246
CHST3 0 1 0 2 0 3
B3GAT3, BSCL2, CSKMT, GANAB, INTS5, LBHD1, LRRN4CL, ROM1, UBXN1, UQCC3 0 0 1 0 0 1
B4GALT7 0 1 0 0 0 1
COL11A2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 17 8 98 112 3 238
Fulgent Genetics, Fulgent Genetics 0 1 2 3 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 2 1 0 0 4
Baylor Genetics 1 0 1 0 0 2
Division of Biology and Genetics, University of Brescia 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 2
Mendelics 1 0 0 0 1 2
Revvity Omics, Revvity 0 1 1 0 0 2
3billion 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 1
Genome-Nilou Lab 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 1

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