ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2353C>G (p.Pro785Ala)

gnomAD frequency: 0.00002  dbSNP: rs755822641
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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 RCV002530136 SCV000650742 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV002466532 SCV002762621 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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