ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3032+9C>G

dbSNP: rs1747926384
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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 RCV002552719 SCV001601924 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540263 SCV004777643 likely benign TERT-related disorder 2023-04-17 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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