ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1769+225G>T

gnomAD frequency: 0.28907  dbSNP: rs7726159
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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 RCV002515604 SCV001721244 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001668374 SCV001890977 benign not provided 2018-09-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30680798)

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