ClinVar Miner

Variants in gene LSS

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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 total
25 13 108 98 84 310

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 6 9 47 91 84 225
Inborn genetic diseases 1 1 57 5 0 64
Alopecia-intellectual disability syndrome 4 13 2 3 0 5 23
LSS-related disorder 0 1 0 8 7 16
Cataract 44 4 1 3 0 5 13
Hypotrichosis 14 4 1 4 0 0 9
Cataract 44; Hypotrichosis 14; Alopecia-intellectual disability syndrome 4 0 1 0 1 1 3
Cataract 44; Alopecia-intellectual disability syndrome 4 0 1 0 0 0 1
Developmental cataract 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 6 5 29 53 33 126
GeneDx 0 4 18 26 63 111
Ambry Genetics 1 1 57 5 0 64
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 49 54
CeGaT Center for Human Genetics Tuebingen 0 0 1 16 4 21
PreventionGenetics, part of Exact Sciences 0 0 0 8 7 15
OMIM 14 0 0 0 0 14
Genome-Nilou Lab 0 1 0 0 5 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 1 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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