ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.969G>A (p.Pro323=) (rs148549782)

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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 RCV000151998 SCV000200557 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro323Pro in exon 2 of TERT: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.5% (21/4194) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs148549782).
Invitae RCV000234397 SCV000291884 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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