ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2658C>A (p.Thr886=) (rs371744235)

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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 RCV000219089 SCV000269872 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr886Thr in exon 11 of TERT: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.3% (13/4174) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV000463258 SCV000561758 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2017-12-16 criteria provided, single submitter clinical testing

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