ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)

gnomAD frequency: 0.00001  dbSNP: rs545032318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002518346 SCV000289134 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-20 criteria provided, single submitter clinical testing
GeneDx RCV001556764 SCV001778400 likely benign not provided 2022-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494650 SCV002797365 likely benign Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977669 SCV004789396 likely benign TRDN-related disorder 2022-05-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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