ClinVar Miner

Submissions for variant NM_001031725.6(DDX59):c.1597-6T>G

dbSNP: rs546799731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729972 SCV001976654 likely pathogenic Orofaciodigital syndrome V 2021-10-01 criteria provided, single submitter clinical testing PM2, PM3, PP3, PP4

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