ClinVar Miner

Submissions for variant NM_198253.2(TERT):c.2097C>T (p.Ala699=) (rs33963617)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214735 SCV000269871 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala699Ala in exon 5 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 0.8% (65/8514) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs33963617).
PreventionGenetics,PreventionGenetics RCV000214735 SCV000316911 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309462 SCV000452673 benign Dyskeratosis Congenita, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364255 SCV000452674 benign Idiopathic fibrosing alveolitis, chronic form 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269651 SCV000452675 benign Aplastic anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470936 SCV000561739 benign Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2017-08-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000214735 SCV000605363 benign not specified 2017-03-29 criteria provided, single submitter clinical testing
GeneReviews RCV000032374 SCV000056030 benign Dyskeratosis congenita autosomal dominant 2012-05-10 no assertion criteria provided curation Converted during submission to Benign.

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