ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.1849C>T (p.Leu617=) (rs140951453)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000244189 SCV000597451 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336462 SCV000452682 likely benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372475 SCV000452683 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287182 SCV000452684 likely benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464143 SCV000561778 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244189 SCV000316908 likely benign not specified criteria provided, single submitter clinical testing

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