ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2517G>A (p.Thr839=) (rs140124989)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249762 SCV000316915 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370894 SCV000452488 likely benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276279 SCV000452489 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326757 SCV000452490 likely benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000476266 SCV000561734 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000249762 SCV000597446 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000787040 SCV000925955 likely benign Dyskeratosis congenita, autosomal dominant, 2 2019-03-25 criteria provided, single submitter clinical testing

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