ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2843+7G>A

gnomAD frequency: 0.00006  dbSNP: rs368429405
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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 RCV002525695 SCV000561746 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546504 SCV005041978 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TERT: BP4

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