ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1105+5G>A

gnomAD frequency: 0.03253  dbSNP: rs41284430
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Total submissions: 8
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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 RCV000217193 SCV000269889 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 1105+5G>A in intron 13 of TRDN: This variant is not expected to have clinical si gnificance because it has been identified in 4.8% (393/8134) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs41284430).
Preventiongenetics, part of Exact Sciences RCV000217193 SCV000311365 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000217193 SCV000520333 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 RCV000621311 SCV000734958 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV002519595 SCV001716602 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 RCV000217193 SCV003928251 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000217193 SCV001919513 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000217193 SCV001958741 benign not specified no assertion criteria provided clinical testing

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