ClinVar Miner

Variants in gene OBSCN

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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 risk factor total
27 9 1421 1668 237 6 3240

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Inborn genetic diseases 1 0 1395 1531 0 0 2927
not provided 24 6 25 246 232 0 503
not specified 0 0 4 9 4 0 17
Rhabdomyolysis, susceptibility to, 1 1 0 1 0 4 6 12
OBSCN-related condition 0 1 3 0 0 0 4
Short stature 0 2 1 0 0 0 3
Hearing loss, autosomal recessive 120 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Ambry Genetics 1 0 1395 1531 0 0 2927
Invitae 24 6 1 117 179 0 327
CeGaT Center for Human Genetics Tuebingen 0 0 9 132 53 0 194
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 13 7 0 21
GeneDx 0 0 0 0 14 0 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 10 3 0 13
Revvity Omics, Revvity Omics 0 0 9 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 0 0 9
OMIM 0 0 0 0 0 6 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 3 2 0 5
Preventiongenetics, part of Exact Sciences 0 1 3 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 3 0 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 2 1 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 0 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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