ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.1574-7G>A (rs34846301)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223338 SCV000270915 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing c.1574-7G>A in intron 2 of TERT: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (57/10146) of African chromos omes. including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://e; dbSNP rs34846301).
Invitae RCV000460127 SCV000561732 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2017-12-20 criteria provided, single submitter clinical testing

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