ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3116C>T (p.Thr1039Met)

gnomAD frequency: 0.00003  dbSNP: rs763381198
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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 RCV002531489 SCV000822612 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256472 SCV002533146 uncertain significance Dyskeratosis congenita 2021-07-16 criteria provided, single submitter curation

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