ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3033-13G>A

gnomAD frequency: 0.00003  dbSNP: rs746630679
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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 RCV003015311 SCV002396102 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-08 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256916 SCV002533144 uncertain significance Dyskeratosis congenita 2022-03-12 criteria provided, single submitter curation

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