ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs)

dbSNP: rs778198100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481756 SCV000572870 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease
Fulgent Genetics, Fulgent Genetics RCV002489172 SCV002796375 likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 2021-10-31 criteria provided, single submitter clinical testing

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