ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1950+15G>A

gnomAD frequency: 0.00326  dbSNP: rs35695689
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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 RCV002551273 SCV002321611 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716860 SCV005305540 benign not provided criteria provided, single submitter not provided

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