ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)

gnomAD frequency: 0.00001  dbSNP: rs746216837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502511 SCV000597468 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524311 SCV001495495 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-02-16 criteria provided, single submitter clinical testing

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