ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2228G>A (p.Arg743Gln)

gnomAD frequency: 0.00002  dbSNP: rs768168259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533373 SCV000770718 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816611 SCV002067707 uncertain significance not specified 2018-12-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255492 SCV002533126 uncertain significance Dyskeratosis congenita 2021-11-04 criteria provided, single submitter curation

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