ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1884C>T (p.Asp628=)

gnomAD frequency: 0.00088  dbSNP: rs143992655
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500716 SCV000597450 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing
Invitae RCV002527297 SCV000650711 benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257776 SCV002533112 likely benign Dyskeratosis congenita 2021-04-15 criteria provided, single submitter curation
Ambry Genetics RCV002257776 SCV002722432 likely benign Dyskeratosis congenita 2022-02-15 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316651 SCV004015605 benign Acute myeloid leukemia 2023-07-07 criteria provided, single submitter clinical testing

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