ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.915G>A (p.Ala305=) (rs2736098)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000151999 SCV000605358 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000151999 SCV000340783 benign not specified 2016-04-01 criteria provided, single submitter clinical testing
GeneReviews RCV000032400 SCV000056056 benign Dyskeratosis congenita autosomal dominant 2012-05-10 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000354373 SCV000452697 benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259572 SCV000452698 benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000144244 SCV000452699 benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151999 SCV000200558 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala305Ala 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 26.0% (2202/8480) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2736098).
PreventionGenetics RCV000151999 SCV000316924 benign not specified criteria provided, single submitter clinical testing
Radiation Cancer Biology Lab, University of Rajasthan Jaipur RCV000144244 SCV000189363 not provided Aplastic anemia no assertion provided not provided

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