ClinVar Miner

Variants in gene combination LOC110806263, TERT

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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 association total
5 1 22 7 1 1 37

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 1 0 21 7 1 0 30
Idiopathic fibrosing alveolitis, chronic form 4 0 0 1 0 0 5
Idiopathic fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita autosomal dominant; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 0 0 2 0 0 0 2
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2 0 0 0 0 0 2
Aplastic anemia 0 0 0 1 0 0 1
Chronic osteomyelitis 0 0 0 0 0 1 1
Dyskeratosis Congenita, Recessive 0 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant, 2 0 0 1 0 0 0 1
Hepatocellular carcinoma 0 1 0 0 0 0 1
not provided 0 0 1 0 0 0 1
not specified 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Invitae 1 0 21 7 1 0 30
GeneReviews 4 0 0 0 0 0 4
OMIM 2 0 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 0 1 0 0 1
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 0 1 0 0 0 0 1
Department of Orthopeadics and Traumatology,Nanfang Hospital 0 0 0 0 0 1 1

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