ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1917C>T (p.Val639=)

dbSNP: rs142989562
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533407 SCV000770768 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816615 SCV002067563 likely benign not specified 2019-04-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004544887 SCV004797179 likely benign TERT-related disorder 2023-09-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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