ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2120A>G (p.Tyr707Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003464687 SCV004208104 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-10-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790569 SCV005410673 uncertain significance not provided 2024-02-27 criteria provided, single submitter clinical testing PP2, PP3, PM2

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