ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1888C>T (p.Leu630=)

dbSNP: rs1579577146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542216 SCV001687812 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2018-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822268 SCV005514510 likely benign Dyskeratosis congenita 2024-11-16 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.

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