ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1545G>A (p.Arg515=)

dbSNP: rs2126683743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002567957 SCV001707321 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2019-04-09 criteria provided, single submitter clinical testing

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