ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.-245T>C

gnomAD frequency: 0.24174  dbSNP: rs2853669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002530516 SCV000770762 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001653969 SCV001864672 benign not provided 2018-10-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26298771, 26575952, 30610818, 31395865, 29534075, 25680408, 16737810, 23348503, 24101484)
Genetic Services Laboratory, University of Chicago RCV001816613 SCV002070516 benign not specified 2019-10-31 criteria provided, single submitter clinical testing

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