ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1408C>A (p.Leu470Met)

gnomAD frequency: 0.09024  dbSNP: rs6569336
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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 RCV000222550 SCV000269896 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu470Met in exon 22 of TRDN: This variant is not expected to have clinical sign ificance because it has been identified in 25.2% (572/2268) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs6569336).
PreventionGenetics, part of Exact Sciences RCV000222550 SCV000311372 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000222550 SCV000338938 benign not specified 2016-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000222550 SCV000521406 benign not specified 2016-10-03 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.
Ambry Genetics RCV000618188 SCV000735168 benign Cardiovascular phenotype 2015-07-15 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.
Invitae RCV002517459 SCV001730344 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000222550 SCV004222963 likely benign not specified 2023-11-20 criteria provided, single submitter clinical testing

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