ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3158-4C>T

dbSNP: rs767207462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002562698 SCV001689306 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-07-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533852 SCV004715512 likely benign TERT-related disorder 2021-07-20 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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