ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2221G>T (p.Val741Leu)

gnomAD frequency: 0.00003  dbSNP: rs150819225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537289 SCV000948662 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-10-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816876 SCV002069593 uncertain significance not specified 2019-12-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569650 SCV005052991 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-11-26 criteria provided, single submitter clinical testing
GeneDx RCV004773174 SCV005384089 uncertain significance not provided 2023-12-28 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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