ClinVar Miner

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

gnomAD frequency: 0.14184  dbSNP: rs11545664
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Total submissions: 9
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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, Mass General Brigham 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, part of Exact Sciences RCV000150652 SCV000302340 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368171 SCV000477357 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000368171 SCV000603443 benign Telangiectasia, hereditary hemorrhagic, type 1 2023-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517824 SCV001726403 benign Hereditary hemorrhagic telangiectasia 2024-02-01 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
Ambry Genetics RCV002415613 SCV002729849 benign Cardiovascular phenotype 2014-12-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004706568 SCV005227527 likely benign not provided criteria provided, single submitter not provided

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