ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2016C>T (p.Arg672=)

dbSNP: rs1283231300
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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 RCV002530123 SCV000650725 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559185 SCV002722978 likely benign Dyskeratosis congenita 2022-03-16 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.
CeGaT Center for Human Genetics Tuebingen RCV004569053 SCV005050989 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TERT: BP4, BP7

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