ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.688C>A (p.Arg230=)

dbSNP: rs989271195
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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 RCV002555537 SCV001639117 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820127 SCV002065378 uncertain significance not specified 2021-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004557643 SCV003911292 likely benign Dyskeratosis congenita 2022-11-17 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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