ClinVar Miner

Variants in gene NSDHL

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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 10 108 89 60 7 231

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 2 6 70 59 58 0 178
Child syndrome; CK syndrome 0 0 23 11 0 0 34
Inborn genetic diseases 0 0 12 12 1 0 25
not specified 0 0 10 8 4 0 22
Child syndrome 10 5 2 0 2 4 20
NSDHL-related disorder 0 0 2 15 1 0 18
CK syndrome 2 1 4 0 2 3 10
Connective tissue disorder 0 0 2 2 3 0 7
Hearing impairment; Scoliosis; High palate; Tall stature; Arachnodactyly; Delayed speech and language development; Dolichocephaly; Long face; Joint hypermobility; Mitral valve prolapse 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure; Abnormal cerebral white matter morphology; Unilateral polymicrogyria; Frontoparietal polymicrogyria 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 4 42 41 50 0 138
GeneDx 0 2 20 11 12 0 45
Fulgent Genetics, Fulgent Genetics 0 0 22 10 0 0 32
Ambry Genetics 0 0 12 12 1 0 25
Genetic Services Laboratory, University of Chicago 4 3 4 6 4 0 21
PreventionGenetics, part of Exact Sciences 0 0 2 15 2 0 19
Breakthrough Genomics, Breakthrough Genomics 0 0 0 5 7 0 12
CeGaT Center for Human Genetics Tuebingen 1 0 4 5 0 0 10
OMIM 8 0 0 0 0 0 8
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 2 2 3 0 7
Eurofins Ntd Llc (ga) 0 0 5 0 2 0 7
GeneReviews 0 0 0 0 0 7 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 1 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 1 0 3
New York Genome Center 0 0 3 0 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Baylor Genetics 0 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
ISCA site 1 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1

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