ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1029C>T (p.Thr343=) (rs3739817)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755257 SCV000603449 benign not provided 2017-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000155540 SCV000168330 benign not specified 2013-10-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000321720 SCV000477336 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374034 SCV000477337 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155540 SCV000205239 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr343Thr in exon 8 of ENG: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 8.0% (691/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3739817).
PreventionGenetics RCV000155540 SCV000302329 benign not specified criteria provided, single submitter clinical testing

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