ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2844-11_2844-10del

gnomAD frequency: 0.00001  dbSNP: rs773793700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501822 SCV000597459 uncertain significance not specified 2017-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527299 SCV000650761 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV004772944 SCV005385515 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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