ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2469-9C>T

gnomAD frequency: 0.00004  dbSNP: rs764029536
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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 RCV002538978 SCV001008507 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258012 SCV002533134 uncertain significance Dyskeratosis congenita 2021-06-15 criteria provided, single submitter curation

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