ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.618C>T (p.Ser206=)

gnomAD frequency: 0.00003  dbSNP: rs759142412
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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 RCV002538956 SCV001006221 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816969 SCV002064970 likely benign not specified 2017-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538232 SCV004750590 likely benign TERT-related disorder 2024-09-15 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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