ClinVar Miner

Variants in gene HSPA9

Minimum submission review status: Collection method:
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Gene type:
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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 total
6 3 48 25 8 82

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 38 0 0 38
not provided 1 3 6 19 6 34
HSPA9-related disorder 1 0 2 7 0 9
Autosomal dominant sideroblastic anemia; Even-plus syndrome 0 0 4 1 0 5
Even-plus syndrome 3 0 0 0 2 5
Autosomal dominant sideroblastic anemia 2 0 2 0 0 4
not specified 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 38 0 0 38
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 12 6 18
CeGaT Center for Human Genetics Tuebingen 0 0 4 7 2 13
PreventionGenetics, part of Exact Sciences 0 0 2 7 0 9
OMIM 5 0 1 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 5 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 1 0 0 2
GeneDx 1 1 0 0 0 2
Revvity Omics, Revvity 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 1 0 0 1

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