ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3117G>A (p.Thr1039=)

gnomAD frequency: 0.00004  dbSNP: rs773595628
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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 RCV002533372 SCV000770717 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-12-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816610 SCV002065606 uncertain significance not specified 2018-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559282 SCV002607383 likely benign Dyskeratosis congenita 2022-04-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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