ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2775C>T (p.His925=) (rs34528119)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000246715 SCV000597444 uncertain significance not specified 2016-01-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284722 SCV000452372 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337468 SCV000452373 likely benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394221 SCV000452374 likely benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233660 SCV000291864 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-01-05 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000850160 SCV000992350 likely benign Dyskeratosis congenita, autosomal dominant, 2 2019-04-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000246715 SCV000316917 likely benign not specified criteria provided, single submitter clinical testing

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