ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.932-4C>G

gnomAD frequency: 0.00098  dbSNP: rs77768246
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Total submissions: 6
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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 RCV000213604 SCV000269908 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 932-4C>G in intron 10 of TRDN: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 5.6% (10/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SN P; dbSNP rs77768246).
Labcorp Genetics (formerly Invitae), Labcorp RCV002517466 SCV000289135 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000213604 SCV000714256 benign not specified 2017-04-25 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 RCV000619863 SCV000735607 benign Cardiovascular phenotype 2016-02-01 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.
Clinical Genetics, Academic Medical Center RCV000213604 SCV001919233 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000213604 SCV001957970 benign not specified no assertion criteria provided clinical testing

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