ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2520G>A (p.Leu840=) (rs144310369)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000356266 SCV000452485 likely benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275523 SCV000452486 likely benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330688 SCV000452487 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000457641 SCV000561769 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-01-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241723 SCV000316916 likely benign not specified criteria provided, single submitter clinical testing

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