ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1950+245C>T

gnomAD frequency: 0.17562  dbSNP: rs2242652
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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 RCV002533421 SCV000770788 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001530593 SCV001745475 benign not provided 2018-10-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23535731)

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