ClinVar Miner

Submissions for variant NM_006073.4(TRDN):c.1472-5C>T

dbSNP: rs2114699560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002554036 SCV001614948 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395935 SCV002697526 uncertain significance Cardiovascular phenotype 2021-01-21 criteria provided, single submitter clinical testing The c.1472-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 24 in the TRDN gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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