ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.1812A>G (p.Ala604=) (rs33959226)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000151997 SCV000597452 likely benign not specified 2017-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342127 SCV000452685 likely benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391810 SCV000452686 likely benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302542 SCV000452687 likely benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000225927 SCV000291853 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151997 SCV000200556 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala604Ala in exon 4 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 0.4% (32/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs33959226).
PreventionGenetics RCV000151997 SCV000316907 likely benign not specified criteria provided, single submitter clinical testing

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