ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.198C>T (p.Pro66=)

dbSNP: rs2126691411
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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 RCV002560349 SCV001662002 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004557673 SCV002717573 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 RCV003434246 SCV004153881 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TERT: PM2:Supporting, BP4, BP7

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