ClinVar Miner

Variants in gene combination NANS, TRIM14

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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 not provided total
14 7 76 61 18 1 166

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 5 3 62 56 18 0 142
Inborn genetic diseases 0 0 22 2 0 0 24
Spondyloepimetaphyseal dysplasia, Genevieve type 10 4 3 0 2 1 19
NANS-related disorder 0 0 0 7 1 0 8
not specified 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 2 58 54 11 0 129
Ambry Genetics 0 0 22 2 0 0 24
GeneDx 1 1 2 0 10 0 14
Breakthrough Genomics, Breakthrough Genomics 0 0 2 2 9 0 13
OMIM 8 0 0 0 0 0 8
PreventionGenetics, part of Exact Sciences 0 0 0 7 1 0 8
CeGaT Center for Human Genetics Tuebingen 1 0 2 2 0 0 5
Department of Pediatrics, Hamamatsu University School of Medicine 1 2 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 0 1 1 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1

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