ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.371-5T>C

gnomAD frequency: 0.00001  dbSNP: rs968260282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873941 SCV001016043 likely benign Parathyroid carcinoma 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346016 SCV002621379 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-24 criteria provided, single submitter clinical testing The c.371-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 5 in the CDC73 gene. This nucleotide position is 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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