ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2793C>T (p.Cys931=)

gnomAD frequency: 0.00004  dbSNP: rs764925909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215099 SCV000270916 likely benign not specified 2015-12-16 criteria provided, single submitter clinical testing p.Cys931Cys in exon 11 of TERT: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/65072 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs764925909).
Labcorp Genetics (formerly Invitae), Labcorp RCV002517510 SCV000561741 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-12-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257519 SCV002533139 likely benign Dyskeratosis congenita 2021-08-16 criteria provided, single submitter curation

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