ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1472-13C>T

gnomAD frequency: 0.00033  dbSNP: rs367962513
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Total submissions: 4
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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 RCV000606839 SCV000711606 likely benign not specified 2016-06-13 criteria provided, single submitter clinical testing c.1472-13C>T in intron 23 of TRDN: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 0.1% (13/9714) of African chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs367962513).
GeneDx RCV001535405 SCV000722902 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529296 SCV002443864 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498887 SCV002813755 likely benign Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-09-01 criteria provided, single submitter clinical testing

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