ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2769G>A (p.Pro923=)

gnomAD frequency: 0.00118  dbSNP: rs200174990
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002518377 SCV000291863 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499661 SCV000597458 likely benign not specified 2017-04-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732368 SCV000860320 uncertain significance not provided 2018-04-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256178 SCV002533137 likely benign Dyskeratosis congenita 2021-10-20 criteria provided, single submitter curation
Ambry Genetics RCV002436045 SCV002752291 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2016-11-03 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316311 SCV004015588 benign Acute myeloid leukemia 2023-07-07 criteria provided, single submitter clinical testing

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