ClinVar Miner

Variants in gene CHST14

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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
24 8 148 132 9 3 302

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cardiovascular phenotype 1 1 82 98 3 0 185
Ehlers-Danlos syndrome, musculocontractural type 13 2 67 52 5 3 138
not provided 2 6 30 13 3 0 51
Ehlers-Danlos syndrome, musculocontractural type 1 12 1 7 0 0 0 20
not specified 0 0 5 6 2 0 12
Ehlers-Danlos syndrome 0 0 5 2 0 0 7
CHST14-related disorder 0 1 1 3 0 0 5

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 1 1 82 98 3 0 185
Labcorp Genetics (formerly Invitae), Labcorp 11 1 66 57 5 0 140
GeneDx 0 5 19 9 3 0 36
OMIM 10 0 0 0 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 4 2 1 0 9
Eurofins Ntd Llc (ga) 1 0 8 0 0 0 9
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 5 2 0 0 7
PreventionGenetics, part of Exact Sciences 0 1 1 4 1 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 0 6
CeGaT Center for Human Genetics Tuebingen 0 1 1 2 0 0 4
Genetic Services Laboratory, University of Chicago 0 1 0 1 1 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 0 1

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