ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.207G>A (p.Leu69=) (rs11545664)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150652 SCV000168329 benign not specified 2014-02-06 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150652 SCV000197993 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu69Leu in exon 2 of ENG: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 25.2% (1109/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs16930129).
PreventionGenetics,PreventionGenetics RCV000150652 SCV000302340 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368171 SCV000477357 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000368171 SCV000603443 benign Hereditary hemorrhagic telangiectasia type 1 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001517824 SCV001726403 benign Hereditary hemorrhagic telangiectasia 2020-12-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150652 SCV001774548 benign not specified 2021-07-08 criteria provided, single submitter clinical testing

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