ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2131-16G>A

gnomAD frequency: 0.00061  dbSNP: rs146768484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237483 SCV002009323 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002540730 SCV002485352 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-31 criteria provided, single submitter clinical testing

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