ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1598-6dup

dbSNP: rs147062785
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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 RCV000219371 SCV000269898 benign not specified 2014-11-26 criteria provided, single submitter clinical testing c.1598-3_1598-2insT in intron 27 of TRDN: This variant is not expected to have c linical significance because it has been identified in 16% (764/4822) of Europea n American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS/; dbSNP rs147062785).
PreventionGenetics, part of Exact Sciences RCV000219371 SCV000311373 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000845432 SCV000730207 benign not provided 2018-06-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619188 SCV000735126 likely benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845432 SCV000987506 benign not provided criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517460 SCV001725158 benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-02-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000219371 SCV003928250 benign not specified 2023-04-09 criteria provided, single submitter clinical testing

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