ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2654+269T>C

gnomAD frequency: 0.54966  dbSNP: rs2075786
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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 RCV002533408 SCV000770769 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001613425 SCV001839385 benign not provided 2018-09-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22948024)

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