ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1853C>T (p.Thr618Met)

gnomAD frequency: 0.00001  dbSNP: rs746434205
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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 RCV002537316 SCV000949729 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV004773177 SCV005385840 uncertain significance not provided 2024-01-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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