ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3032+7C>T

gnomAD frequency: 0.00001  dbSNP: rs371500615
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151995 SCV000200554 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing 3032+7C>T in intron 13 of TERT: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 1/8478 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS).
Labcorp Genetics (formerly Invitae), Labcorp RCV002516056 SCV000561752 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532686 SCV004714751 likely benign TERT-related disorder 2022-01-18 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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