ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1215C>T (p.Tyr405=)

gnomAD frequency: 0.00001  dbSNP: rs1416285081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002536793 SCV001021219 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354710 SCV002656252 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2022-03-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003438545 SCV004153873 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing TERT: BP4, BP7

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