ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2982C>T (p.Leu994=)

dbSNP: rs762178169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003104005 SCV001673301 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434137 SCV002751216 likely benign Dyskeratosis congenita; Hereditary cancer-predisposing syndrome 2022-07-19 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.
PreventionGenetics, part of Exact Sciences RCV003895344 SCV004711465 likely benign TERT-related condition 2020-12-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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