ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.300G>A (p.Thr100=)

gnomAD frequency: 0.00012  dbSNP: rs377393927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002554062 SCV001618698 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438969 SCV002754210 likely benign Cardiovascular phenotype 2019-10-04 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.
Breakthrough Genomics, Breakthrough Genomics RCV004707591 SCV005225229 likely benign not provided criteria provided, single submitter not provided

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