ClinVar Miner

Variants in gene ARMC9

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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
34 28 316 249 50 651

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 25 19 282 242 49 609
Inborn genetic diseases 0 0 61 3 0 64
Joubert syndrome 30 11 5 10 0 2 25
ARMC9-related disorder 0 0 2 12 7 21
ARMC9-related Joubert syndrome 10 0 1 0 0 11
Joubert syndrome 0 10 0 0 0 10
Dandy-Walker syndrome 0 2 0 0 0 2
not specified 0 0 2 0 0 2
Corpus callosum, agenesis of; Diabetes mellitus 0 0 1 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 1
See cases 0 0 0 0 1 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 25 17 274 236 39 591
Ambry Genetics 0 0 61 3 0 64
GeneDx 1 1 14 0 18 34
Breakthrough Genomics, Breakthrough Genomics 0 1 4 2 26 33
CeGaT Center for Human Genetics Tuebingen 1 1 1 16 4 23
PreventionGenetics, part of Exact Sciences 0 0 2 12 7 21
University of Washington Center for Mendelian Genomics, University of Washington 0 10 0 0 0 10
UW Hindbrain Malformation Research Program, University of Washington 10 0 0 0 0 10
OMIM 9 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 3 0 0 4
Revvity Omics, Revvity 0 2 1 0 0 3
Baylor Genetics 1 0 1 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Undiagnosed Diseases Network, NIH 0 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 0 1 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 1

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