ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.835G>A (p.Ala279Thr) (rs61748181)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176003 SCV000227583 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
GeneReviews RCV000032399 SCV000056055 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000391188 SCV000452706 benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295005 SCV000452707 benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032399 SCV000452708 benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000465523 SCV000561747 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2017-08-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000176003 SCV000269873 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala279Thr in exon 2 of TERT: This variant is not expected to have clinical signi ficance because it has been identified in 3.0% (255/8580) of European American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs61748181).
PreventionGenetics RCV000176003 SCV000316923 benign not specified criteria provided, single submitter clinical testing

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