ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.973-5T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004952606 SCV005553784 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-24 criteria provided, single submitter clinical testing The c.973-5T>A intronic variant results from a T to A substitution 5 nucleotides upstream from coding exon 11 in the CDC73 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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