ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) (rs199422294)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Degerman lab,Umeå University RCV000677344 SCV000611696 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2017-11-23 criteria provided, single submitter clinical testing
OMIM RCV000022783 SCV000044072 pathogenic Dyskeratosis congenita, autosomal dominant, 2 2008-06-01 no assertion criteria provided literature only
GeneReviews RCV000032370 SCV000056026 pathologic Idiopathic Pulmonary Fibrosis 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Department of Respiratory and Critical Care Medicine, Tongji Hospital,Tongji Medical College, Huazhong University of Science and Technology RCV000032370 SCV000803359 pathogenic Idiopathic Pulmonary Fibrosis 2018-05-06 no assertion criteria provided case-control

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