ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1932C>T (p.Ile644=)

gnomAD frequency: 0.00609  dbSNP: rs181330955
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214944 SCV000269081 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile644Ile in exon 15 of ENG: 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 12.9% (17/132) of Mex ican chromosomes from a broad population by the 1000 Genomes Project (http://www .ncbi.nlm.nih.gov/projects/SNP; dbSNP rs181330955).
PreventionGenetics, part of Exact Sciences RCV000214944 SCV000306656 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282878 SCV000477304 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000282878 SCV000603450 benign Telangiectasia, hereditary hemorrhagic, type 1 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001723792 SCV001950502 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408920 SCV002721008 benign Cardiovascular phenotype 2015-06-08 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 RCV001723792 SCV005227514 likely benign not provided criteria provided, single submitter not provided

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